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: PA2827894888

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 479700

ClinVar RCV Id: RCV001239916 RCV000575071 RCV003238777

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341549.1:p.Asp330Asn	CA72796336 NM_001354620.2:c.988G>A