ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139698636
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
928306
ClinVar RCV Id:
RCV001192084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Glu94Val
CA049001
NM_001322014.1:c.281A>T