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: PA645509898

Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439372

ClinVar RCV Id: RCV000508467 RCV001857254

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Trp274Cys	CA384900449 NM_000020.3:c.822G>C CA384900451 NM_000020.3:c.822G>T