ClinGen Allele Registry
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Canonical Allele Identifier:
PA916026056
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188248
ClinVar RCV Id:
RCV000168211
RCV000220002
RCV003318558
RCV003995612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.His634Arg
CA010440
NM_001322014.1:c.1901A>G