ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573101004
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1304491
ClinVar RCV:
RCV001771461
RCV001868619
RCV004040282
ClinVar Variation:
1314230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Pro81Gln
CA351750529
NM_198156.3:c.242C>A