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: PA2827126566

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91298

ClinVar RCV Id: RCV000009820

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Lys226del	CA009383 NM_001322010.2:c.676_678del CA366742507 NM_001322010.2:c.676A>T CA366742513 NM_001322010.2:c.673A>T