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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:
CA1474474596
Gene: IBSP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87811461G= , CM000666.2:g.87811461G=
GRCh38
NC_000004.11:g.88732613G= , CM000666.1:g.88732613G=
GRCh37
NC_000004.10:g.88951637G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000226284.7:c.505G=
MANE Select
ENSP00000226284.5:p.Val169=
ENST00000226284.6:c.505G=
ENSP00000226284.5:p.Val169=
NM_004967.3:c.505G=
NP_004958.2:p.Val169=
NM_004967.4:c.505G=
MANE Select
NP_004958.2:p.Val169=
Search 100 bp 5'
Search 100 bp 3'