ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827137955
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_001308944.1:p.Gly349Ser
CA043115
NM_001322015.1:c.1045G>A