ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827101239
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000579556
ClinVar Variation:
490098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Arg493Gly
CA366739441
NM_001322003.2:c.1477C>G