ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825322964
Gene: VPS13A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018047.1:p.Ser1710Leu
CA5092707
NM_001018037.2:c.5129C>T