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: PA916038761

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36557

ClinVar RCV Id: RCV000030230 RCV000034548 RCV000035355 RCV000144603 RCV000131385 RCV000614686 RCV001083425 RCV001269359

ClinVar Variation Id: 920597

ClinVar RCV Id: RCV001179447 RCV001448370

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341559.1:p.Ile219Val	CA011410 NM_001354630.2:c.655A>G CA913187571 NM_001354630.2:c.654_655delinsTG