ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827114051
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187605
ClinVar RCV Id:
RCV000167349
RCV000229343
RCV000759911
RCV000987853
RCV003150031
RCV002478518
RCV003995585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Ala38Val
CA009226
NM_001322006.2:c.113C>T