ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239023
Gene: SLC12A6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_598408.1:p.Pro77Arg
CA239021
NM_133647.2:c.230C>G