ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826902076
Gene: SLC5A7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291935.1:p.Val127Ile
CA348112916
NM_001305006.3:c.379G>A