ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026386
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
638152
ClinVar RCV Id:
RCV000993767
RCV001022626
RCV002535819
RCV003467323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Arg48Gly
CA366744323
NM_001322015.1:c.142C>G