ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3072138353
Gene: SLC29A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001071643.1:p.Ile216Thr
CA3831632
NM_001078175.3:c.647T>C