ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825852042
Gene: SLC6A8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21448
ClinVar RCV Id:
RCV000020635
RCV000623073
RCV000479265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136277.1:p.Phe107del
CA342090
NM_001142805.2:c.321_323del