ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025626
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
525724
ClinVar RCV Id:
RCV001358610
RCV000629959
RCV002457987
RCV003451495
RCV001692240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Ser118Asn
CA366744522
NM_001322014.1:c.353G>A