ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827131880
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91334
ClinVar RCV Id:
RCV000076849
RCV000115679
RCV000212868
RCV000524463
RCV001253062
RCV002271400
RCV003398663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Gly439Asp
CA011133
NM_001322012.1:c.1316G>A