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: PA099495

Gene: ACTN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42028

ClinVar RCV Id: RCV000034866 RCV000852110 RCV002513345

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001093.1:p.Val105Ile	CA130958 NM_001102.4:c.313G>A