ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827119318
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141651
ClinVar RCV Id:
RCV000130250
RCV000222360
RCV000230692
RCV001251272
RCV001798443
RCV003467136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Lys584Gln
CA010772
NM_001322007.2:c.1750A>C