ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026451
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187514
ClinVar RCV Id:
RCV000167249
RCV000233931
RCV000410857
RCV000512735
RCV000722125
RCV000758686
RCV003927555
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Arg96Cys
CA012356
NM_001322015.1:c.286C>T