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: PA091102

Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426018

ClinVar RCV Id: RCV000488544 RCV001388094 RCV002413346

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Leu285Phe	CA384900562 NM_000020.3:c.853C>T