ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827116799
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220740
ClinVar RCV Id:
RCV000204089
RCV000662637
RCV000568777
RCV000764721
RCV001328413
RCV001753620
RCV003150094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Pro742Ser
CA348346
NM_001322006.2:c.2224C>T