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: PA2826719304

Gene: DNM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422075

ClinVar RCV Id: RCV000478915

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001275668.1:p.Tyr390Ser	CA16618755 NM_001288739.2:c.1169A>C