ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026454
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000121858
RCV000412111
RCV000570676
RCV001030724
RCV001244956
RCV003153398
ClinVar Variation:
135070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Val97Ile
CA012369
NM_001322015.1:c.289G>A