ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916076704
Gene: VPS13A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_150648.2:p.Val2181Ile
CA5093063
NM_033305.3:c.6541G>A