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: PA2827901636

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90090

ClinVar RCV Id: RCV000115474 RCV000563079 RCV000791373 RCV003894921 RCV003997127

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341553.1:p.Asp379Val	CA009102 NM_001354624.2:c.1136A>T