ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463646
Gene: SLC6A8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
436771
ClinVar RCV Id:
RCV000499651
RCV000640937
RCV001092998
RCV001834620
RCV002323868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005620.1:p.Ala388Thr
CA10549443
NM_005629.4:c.1162G>A