ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645476989
Gene: VPS13B
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_060360.3:p.Ser2182Ter
NM_017890.5:c.6545C>A
NM_017890.5:c.6545C>G