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: PA130960

Gene: ACTN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42028

ClinVar RCV Id: RCV000034866 RCV000852110 RCV002513345

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123476.1:p.Val105Ile	CA130958 NM_001130004.2:c.313G>A