ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025932
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480321
ClinVar RCV Id:
RCV000562900
RCV000796414
RCV002509443
RCV003459301
RCV004000893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Ser545Cys
CA153227998
NM_001322014.1:c.1634C>G