ClinGen Allele Registry
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Canonical Allele Identifier:
PA645477095
Gene: VPS13B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
361089
ClinVar RCV Id:
RCV000287949
RCV000501573
RCV003258797
RCV003912549
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060360.3:p.Leu3487Phe
CA10628543
NM_017890.5:c.10459C>T