ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827134077
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000130250
RCV000222360
RCV000230692
RCV001251272
RCV001798443
RCV003467136
ClinVar Variation:
141651
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Lys499Gln
CA010772
NM_001322013.1:c.1495A>C