ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092433
Gene: SLC17A5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000005970
ClinVar Variation:
5618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036566.1:p.His183Arg
CA253538
NM_012434.5:c.548A>G