ClinGen Allele Registry
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Canonical Allele Identifier:
PA148914
Gene: VPS13B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95826
ClinVar RCV Id:
RCV000081872
RCV000361059
RCV000710109
RCV003964938
RCV002313806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060360.3:p.Ala3716Thr
CA148910
NM_017890.5:c.11146G>A