ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3087916343
Gene: SLC12A5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065759.1:p.Gly528Val
CA409195849
NM_020708.5:c.1583G>T