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: PA2825448510

Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2982311

ClinVar RCV Id: RCV003842958

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070869.1:p.Cys34Ser	CA384897503 NM_001077401.2:c.100T>A CA384897510 NM_001077401.2:c.101G>C