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: PA2826640856

Gene: MATR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 859218

ClinVar RCV Id: RCV001065282

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269207.1:p.Asp415del	CA128241063 NM_001282278.2:c.1243_1245del