ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827365674
Gene: WDR48
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000516121
RCV000762109
RCV003915340
ClinVar Variation:
424665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333155.1:p.Ser37Ala
CA2322939
NM_001346226.2:c.109T>G