ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139698631
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
846859
ClinVar RCV Id:
RCV001050268
RCV003396665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Gln93Arg
CA366744674
NM_001322014.1:c.278A>G