ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828910578
Gene: SLC17A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005973
RCV000049971
RCV000485185
ClinVar Variation:
56558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369563.1:p.Ser268_Asn272del
CA263930
NM_001382634.1:c.802_816del