ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827134712
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230486
ClinVar RCV Id:
RCV000217218
RCV000222472
RCV000530024
RCV000764718
RCV001249991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Ala663Thr
CA048880
NM_001322013.1:c.1987G>A