ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827123940
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230823
ClinVar RCV Id:
RCV000221391
RCV000521141
RCV000629994
RCV001731444
RCV003997861
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308938.1:p.Gly317Ser
CA043115
NM_001322009.2:c.949G>A