ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864079
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9245
ClinVar RCV Id:
RCV000009826
RCV000056324
RCV000076807
RCV000115657
RCV000200994
RCV000524432
RCV000722017
RCV001353458
RCV001267878
RCV001797999
RCV001804723
RCV002476951
RCV003335023
RCV003390667
RCV004555831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Ser46Ile
CA009597
NM_000535.7:c.137G>T