ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825852029
Gene: SLC6A8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449185
ClinVar RCV Id:
RCV000522419
RCV000640932
RCV002438252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136277.1:p.Val95Ile
CA10549177
NM_001142805.2:c.283G>A