ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827138702
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000463007
RCV000573574
RCV000765955
RCV001821289
RCV004001875
ClinVar Variation:
411037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Gln540Arg
CA045882
NM_001322015.1:c.1619A>G