ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830316919
Gene: VPS13B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1338320
ClinVar RCV Id:
RCV001817691
RCV001869781
RCV003407829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689777.3:p.Glu2910Lys
CA4824532
NM_152564.5:c.8728G>A