ClinGen Allele Registry
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Canonical Allele Identifier:
PA916025840
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000034616
RCV000076810
RCV000079104
RCV000130906
RCV000625385
RCV001081087
RCV001353499
ClinVar Variation:
41702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Thr485Lys
CA009697
NM_001322014.1:c.1454C>A