ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057559024
Gene: SLC12A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005009678
ClinVar Variation:
3577262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371065.1:p.Val284Ile
CA392307250
NM_001384136.1:c.850G>A