ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499271540
Gene: SLC6A8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1064861
ClinVar RCV Id:
RCV001375028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005620.1:p.Gln418Lys
CA415086639
NM_005629.4:c.1252C>A