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: PA098716

Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18279

ClinVar RCV Id: RCV000019941 RCV003151730 RCV001731311

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091.1:p.Leu96Pro	CA258130 NM_001100.4:c.287T>C