ClinGen Allele Registry
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Canonical Allele Identifier:
PA916025985
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000166892
RCV000232525
RCV000482685
RCV000780626
RCV003462228
ClinVar Variation:
187190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Arg578Ser
CA010189
NM_001322014.1:c.1732C>A