ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827117094
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000199747
RCV001015438
RCV003468908
RCV003997028
ClinVar Variation:
216456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Arg9Gly
CA048060
NM_001322007.2:c.25C>G