ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827132985
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
455645
ClinVar RCV Id:
RCV000551665
RCV000987835
RCV001010398
RCV004003759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Arg216Gly
CA042611
NM_001322013.1:c.646A>G