ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580119118
Gene: VWF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000543.3:p.Cys2248Tyr
CA383489958
NM_000552.5:c.6743G>A