ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139730363
Gene: VPS13B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
968452
ClinVar RCV Id:
RCV001243588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060360.3:p.Val2456Met
CA4824188
NM_017890.5:c.7366G>A