ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825594188
Gene: SLC7A7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119577.1:p.Leu147Phe
CA7104711
NM_001126105.3:c.439C>T