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: PA2827128554

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 926365

ClinVar RCV Id: RCV001188924 RCV003594117

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308940.1:p.Val69Ala	CA366742727 NM_001322011.2:c.206T>C