ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3075061988
Gene: VPS13B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060360.3:p.Gln2244Lys
CA371867499
NM_017890.5:c.6730C>A