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: PA091085

Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330268

ClinVar RCV Id: RCV001801300 RCV002422861

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Cys69Arg	CA384897896 NM_000020.3:c.205T>C