ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827127481
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127768
ClinVar RCV Id:
RCV000115668
RCV000195978
RCV000212864
RCV001844040
RCV003997288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Arg459Met
CA010512
NM_001322010.2:c.1376G>T