ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825852920
Gene: SLC6A8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000055919
ClinVar Variation:
65693
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136278.1:p.Pro439Leu
CA345036
NM_001142806.1:c.1316C>T