ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827129661
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192316
ClinVar RCV Id:
RCV000172908
RCV000630142
RCV001284205
RCV001179765
RCV001804905
RCV003454446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Ile357Val
CA358701
NM_001322011.2:c.1069A>G