ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828125997
Gene: SLC33A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1469750
ClinVar RCV Id:
RCV001961733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350812.1:p.Leu52Val
CA355144351
NM_001363883.1:c.154C>G