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: PA2826766927

Gene: PMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135047

ClinVar RCV Id: RCV000121820 RCV000968997

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001276338.1:p.Thr630Ser	CA161513 NM_001289409.2:c.1889C>G CA349887054 NM_001289409.2:c.1888A>T