ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827133605
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000129896
RCV000132456
RCV000478617
RCV000587523
RCV000662634
RCV001080776
RCV001081618
RCV001193855
RCV001263509
RCV003492543
ClinVar Variation:
135940
141394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Arg372Gln
CA010042
NM_001322013.1:c.1115_1116delinsAG
CA010059
NM_001322013.1:c.1115G>A