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: PA658698628

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 489902

ClinVar RCV Id: RCV000580170

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Ile219Met	CA352042778 NM_000249.4:c.657C>G