ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3085440814
Gene: SLC14A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009094.3:p.Val750Phe
CA402332304
NM_007163.4:c.2248G>T