ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA228629
Gene: VWF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000543.2:p.Ser1543Phe
CA228628
NM_000552.4:c.4628C>T