ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573171095
Gene: VWF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000543.3:p.Leu1696Arg
CA383496698
NM_000552.5:c.5087T>G