ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573199432
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1692461
ClinVar RCV Id:
RCV002257216
RCV002300661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Asp694His
CA366738042
NM_001322014.1:c.2080G>C