ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827124519
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_001308938.1:p.Ser410Cys
CA153227998
NM_001322009.2:c.1229C>G