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: PA2826038545

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 89693

ClinVar RCV Id: RCV003153347

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001161089.1:p.Glu335Gln	CA004925 NM_001167617.3:c.1003G>C