ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573295940
Gene: SLC52A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1354047
ClinVar RCV Id:
RCV001863736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_212134.3:p.Thr185Asn
CA407963602
NM_033409.4:c.554C>A