ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825852334
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_001136277.1:p.Ile435Phe
CA415086872
NM_001142805.2:c.1303A>T