ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825922768
Gene: SLC12A4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139434.1:p.Ser240Leu
CA8122087
NM_001145962.1:c.719C>T