ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580117675
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2087988
ClinVar RCV Id:
RCV003017988
RCV003465888
RCV003317638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Ser168Asn
CA351756182
NM_000551.4:c.503G>A