ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830317927
Gene: VPS13B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2763964
ClinVar RCV Id:
RCV003498713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689777.3:p.Thr3938Lys
CA371795607
NM_152564.5:c.11813C>A