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: PA2827890444

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1788687

ClinVar RCV Id: RCV002443796

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341546.1:p.Arg514Met	CA352069892 NM_001354617.2:c.1541G>T