ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139752282
Gene: SLC17A8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_647480.1:p.Ala540Val
CA6739068
NM_139319.3:c.1619C>T