ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658719942
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000590750
RCV002225684
RCV002530908
ClinVar Variation:
496062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Asn131Ser
CA351753941
NM_000551.4:c.392A>G