ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825852632
Gene: SLC6A8
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000458335
RCV001528827
RCV003899988
ClinVar Variation:
416002
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136278.1:p.Val159Met
CA10549333
NM_001142806.1:c.475G>A