ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827365663
Gene: WDR48
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424665
ClinVar RCV Id:
RCV000516121
RCV000762109
RCV003915340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333154.1:p.Ser94Ala
CA2322939
NM_001346225.2:c.280T>G