ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827102126
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185339
ClinVar RCV Id:
RCV000164743
RCV000206423
RCV000410095
RCV000486892
RCV000761045
RCV000781746
RCV001358129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Ala590Val
CA010984
NM_001322003.2:c.1769C>T