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: PA2827304981

Gene: MRE11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2451354

ClinVar RCV Id: RCV003182370

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317276.1:p.Val650Met	CA382374109 NM_001330347.2:c.1948G>A