ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139721564
Gene: SLC17A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
851588
ClinVar RCV Id:
RCV001056013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036566.1:p.Pro441Leu
CA364719978
NM_012434.5:c.1322C>T