ClinGen Allele Registry
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Canonical Allele Identifier:
PA916026139
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
140847
ClinVar RCV Id:
RCV000129052
RCV000234750
RCV000214144
RCV003389702
RCV003453059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Asp699His
CA010800
NM_001322014.1:c.2095G>C