ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA228716
Gene: VWF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000543.2:p.Ser1783Ala
NM_000552.4:c.5347T>G