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: PA645418970

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 232474

ClinVar RCV Id: RCV000218091

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Leu432Phe	CA10578247 NM_000249.4:c.1294C>T