ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825410077
Gene: SLC12A6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035962.1:p.Arg323Cys
CA7464420
NM_001042497.2:c.967C>T