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: PA645417855

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237309

ClinVar RCV Id: RCV000580764 RCV001296983 RCV003987464

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Val360Phe	CA10582169 NM_000249.4:c.1078G>T