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: PA2827127349

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 188287

ClinVar RCV Id: RCV000168273 RCV000486825 RCV000574365 RCV003468829 RCV003995619

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Lys423Glu	CA010309 NM_001322010.2:c.1267A>G