ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487796
Gene: SLC17A8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
306626
ClinVar RCV Id:
RCV000327044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_647480.1:p.Ala177Val
CA6738777
NM_139319.3:c.530C>T