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: PA2827890448

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495766

ClinVar RCV Id: RCV000588618 RCV001041464

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341546.1:p.Cys515Gly	CA034051 NM_001354617.2:c.1543T>G