ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580417128
Gene: VPS13B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060360.3:p.Trp3649Ser
CA371788569
NM_017890.5:c.10946G>C