ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827138568
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000168042
RCV000482215
RCV000562276
RCV003995603
ClinVar Variation:
188154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Val504Ile
CA010297
NM_001322015.1:c.1510G>A