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: PA2826194926

Gene: MATR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1196920

ClinVar RCV Id: RCV001560577 RCV001865974 RCV004536183

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001181884.1:p.Ala751Thr	CA3433400 NM_001194955.2:c.2251G>A