ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025514
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000575629
RCV000696704
RCV001355657
ClinVar Variation:
480339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Ser36Gly
CA366745053
NM_001322014.1:c.106A>G