ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827138453
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000164553
RCV000229601
RCV003995348
ClinVar Variation:
185184
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Lys474Glu
CA010180
NM_001322015.1:c.1420A>G