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: PA2827134141

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 984459

ClinVar RCV Id: RCV001264444

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Asp513Glu	CA366737972 NM_001322013.1:c.1539C>G CA366737973 NM_001322013.1:c.1539C>A