ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA273926
Gene: SLC37A4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001157749.1:p.Gln248Ter
NM_001164277.2:c.742C>T