ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825852271
Gene: SLC6A8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1361089
ClinVar RCV Id:
RCV001874229
RCV003128822
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136277.1:p.Pro380Leu
CA415086230
NM_001142805.2:c.1139C>T