ClinGen Allele Registry
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Canonical Allele Identifier:
PA180491
Gene: VPS13B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689777.3:p.Asn3351Ile
CA180488
NM_152564.5:c.10052A>T