ClinGen Allele Registry
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Canonical Allele Identifier:
PA916056848
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182981
ClinVar RCV Id:
RCV000161089
RCV000168429
RCV000294881
RCV000492422
RCV000781920
RCV003416030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Pro2Leu
CA020518
NM_198156.3:c.5C>T