ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3083006724
Gene: SLC12A4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005063.1:p.Ser238Trp
CA8122088
NM_005072.5:c.713C>G