ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827115475
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000218301
RCV000687861
RCV000987832
ClinVar Variation:
234077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Arg399Lys
CA10578679
NM_001322006.2:c.1196G>A