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: PA1139675731

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 951886

ClinVar RCV Id: RCV001223887

ClinVar Variation Id: 1786523

ClinVar RCV Id: RCV002430488

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Lys713Asn	CA352069062 NM_000249.4:c.2139G>C CA352069065 NM_000249.4:c.2139G>T