ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026164
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
455689
ClinVar RCV Id:
RCV000526601
RCV000566351
RCV003478115
RCV003470718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Leu723Pro
CA366737847
NM_001322014.1:c.2168T>C