ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104621
Gene: SLC6A8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1361089
ClinVar RCV Id:
RCV001874229
RCV003128822
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005620.1:p.Pro390Leu
CA415086230
NM_005629.4:c.1169C>T