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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:
CA411033634
Gene: MN1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr22:g.28147045G>A (hg19)
chr22:g.27751057G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.27751057G>A , CM000684.2:g.27751057G>A
GRCh38
NC_000022.10:g.28147045G>A , CM000684.1:g.28147045G>A
GRCh37
NC_000022.9:g.26477045G>A
NCBI36
NG_023258.1:g.55442C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000703102.1:n.346C>T
ENST00000302326.5:c.3821C>T
MANE Select
ENSP00000304956.4:p.Pro1274Leu
ENST00000302326.4:c.3821C>T
ENSP00000304956.4:p.Pro1274Leu
ENST00000424656.1:c.174C>T
ENST00000497225.1:n.177C>T
NM_002430.2:c.3821C>T
NP_002421.3:p.Pro1274Leu
NM_002430.3:c.3821C>T
MANE Select
NP_002421.3:p.Pro1274Leu
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