ClinGen Allele Registry
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Canonical Allele Identifier:
PA108715
Gene: VHL
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000542.1:p.Leu163Pro
NM_000551.4:c.[486_487del;489_490dup]
NM_000551.4:c.[488del;490dup]
NM_000551.4:c.488T>C
NM_000551.4:c.488_489delinsCT