ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827101288
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188248
ClinVar RCV Id:
RCV000168211
RCV000220002
RCV003318558
RCV003995612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.His499Arg
CA010440
NM_001322003.2:c.1496A>G