ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239621
Gene: VPS13B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056058.2:p.His520Arg
CA239617
NM_015243.3:c.1559A>G