ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827131483
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411037
ClinVar RCV Id:
RCV000765955
RCV000463007
RCV000573574
RCV001821289
RCV004001875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Gln332Arg
CA045882
NM_001322012.1:c.995A>G