ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573232051
Gene: SLC7A5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003477.4:p.Pro375Leu
CA8222777
NM_003486.7:c.1124C>T