ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025332
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142875
ClinVar RCV Id:
RCV000132334
RCV000168006
RCV000479344
RCV000987836
RCV001193252
RCV003389704
RCV003998143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Pro93Arg
CA009336
NM_001322012.1:c.278C>G