ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827107385
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135940
ClinVar RCV Id:
RCV000132456
RCV000587523
RCV001080776
RCV001263509
RCV003492543
ClinVar Variation Id:
141394
ClinVar RCV Id:
RCV000129896
RCV000478617
RCV000662634
RCV001081618
RCV001193855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Arg428Gln
CA010042
NM_001322004.2:c.1283_1284delinsAG
CA010059
NM_001322004.2:c.1283G>A