ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279758
Gene: SLC12A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000202151
ClinVar Variation:
217906
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128243.1:p.Leu311His
CA279757
NM_001134771.2:c.932T>A