Allele Registry

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.

Canonical Allele Identifier: PA915963832

Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426039

ClinVar RCV Id: RCV000488579 RCV002272257

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070869.1:p.Lys487Thr	CA384905912 NM_001077401.2:c.1460A>C