ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499271542
Gene: SLC6A8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1006805
ClinVar RCV Id:
RCV001303905
RCV001776182
RCV001830202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005620.1:p.Ile445Phe
CA415086872
NM_005629.4:c.1333A>T