ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827099576
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230651
ClinVar RCV Id:
RCV000214914
RCV000460028
RCV000481558
RCV000987831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Gly317Arg
CA043129
NM_001322003.2:c.949G>C