ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825852702
Gene: SLC6A8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000370906
RCV003512029
ClinVar Variation:
280226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136278.1:p.Val243_Phe250del
CA10603706
NM_001142806.1:c.727_750del