ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827131719
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003593710
ClinVar Variation:
2751312
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Lys395_Glu399del
CA2697553871
NM_001322012.1:c.1184_1198del