ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139739129
Gene: SLC5A7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068587.1:p.Ala394Gly
CA348114022
NM_021815.5:c.1181C>G