ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825852906
Gene: SLC6A8
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055918
ClinVar Variation:
65692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136278.1:p.Pro429Leu
CA345034
NM_001142806.1:c.1286C>T