ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025528
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91301
ClinVar RCV Id:
RCV000076806
RCV000524431
RCV000584471
RCV001185073
RCV001798271
RCV003452984
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Ser46Asn
CA009592
NM_001322014.1:c.137G>A