ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825852286
Gene: SLC6A8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1019897
ClinVar RCV Id:
RCV001319400
RCV003442845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136277.1:p.Leu395Pro
CA415086511
NM_001142805.2:c.1184T>C