ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825924043
Gene: SLC14A1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000019293
ClinVar Variation:
17720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139508.2:p.Ser291Pro
CA127342
NM_001146036.3:c.871T>C