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: PA2825004782

Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3230550

ClinVar RCV Id: RCV004520701

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Trp274Arg	CA384900438 NM_000020.3:c.820T>A CA384900439 NM_000020.3:c.820T>C