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: PA2827125888

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 847830

ClinVar RCV Id: RCV001051458 RCV002348399

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Asn41Ile	CA366744168 NM_001322010.2:c.122A>T