ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280348
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
99235
ClinVar RCV:
RCV000079209
RCV000767256
RCV002321574
ClinVar Variation:
93328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Ile109Asn
CA020268
NM_000551.4:c.326T>A