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: PA118660

Gene: DNM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 7280

ClinVar RCV Id: RCV000007703 RCV000145899 RCV000641108 RCV001027496 RCV001537068

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005362.1:p.Arg369Trp	CA118658 NM_001005362.3:c.1105C>T