ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825669122
Gene: SLC14A1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000019293
ClinVar Variation:
17720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122060.3:p.Ser347Pro
CA127342
NM_001128588.4:c.1039T>C