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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA346226314
Gene: OSR1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.19552915G>T (hg19)
chr2:g.19353154G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.19353154G>T , CM000664.2:g.19353154G>T
GRCh38
NC_000002.11:g.19552915G>T , CM000664.1:g.19552915G>T
GRCh37
NC_000002.10:g.19416396G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000272223.3:c.652C>A
MANE Select
ENSP00000272223.2:p.Leu218Met
ENST00000272223.2:c.652C>A
ENSP00000272223.2:p.Leu218Met
ENST00000487581.1:n.3759C>A
NM_145260.2:c.652C>A
NP_660303.1:p.Leu218Met
XM_006711942.2:c.652C>A
XP_006712005.1:p.Leu218Met
XM_006711942.4:c.652C>A
XP_006712005.1:p.Leu218Met
NM_145260.3:c.652C>A
MANE Select
NP_660303.1:p.Leu218Met
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