ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA130076
Gene: SLC3A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000332.2:p.Tyr533Asn
CA130075
NM_000341.4:c.1597T>A