ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580117501
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002357396
RCV003102470
ClinVar Variation:
1735887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Val130Ile
CA351753916
NM_000551.4:c.388G>A