ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828472478
Gene: SLC29A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429191
ClinVar RCV Id:
RCV000492821
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001359256.1:p.Thr387Pro
CA364311409
NM_001372327.1:c.1159A>C