ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830430986
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411984
ClinVar RCV Id:
RCV000467837
RCV002356705
RCV003153642
RCV003463964
RCV003480645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Thr161Ile
CA041863
NM_198156.3:c.482C>T