ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827134139
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002623273
ClinVar Variation:
2186459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Asp513Gly
CA366737975
NM_001322013.1:c.1538A>G