ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139698196
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001188924
RCV003594117
ClinVar Variation:
926365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Val69Ala
CA366742727
NM_001322012.1:c.206T>C