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: PA645418965

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421629

ClinVar RCV Id: RCV000482194 RCV000568094 RCV000698009 RCV003333749

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Glu430del	CA16617913 NM_000249.4:c.1288_1290del CA352053104 NM_000249.4:c.1285G>T CA352053138 NM_000249.4:c.1288G>T