ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3072126608
Gene: SLC17A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005065.2:p.Thr269Asn
CA363158069
NM_005074.5:c.806C>A