ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827127978
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233391
ClinVar RCV Id:
RCV000216483
RCV000486115
RCV000697244
RCV000766549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Phe591Ile
CA10578647
NM_001322010.2:c.1771T>A