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: PA2828514002

Gene: DYM HGNC NCBI

Linked Data

ClinVar Variation Id: 191094

ClinVar RCV Id: RCV000171274

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361358.1:p.Ser140Asn	CA236000 NM_001374429.1:c.419G>A