ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573181953
Gene: SLC12A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1524383
ClinVar RCV Id:
RCV002031677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128243.1:p.Pro1046Ala
CA9887773
NM_001134771.2:c.3136C>G