ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063155281
Gene: VPS13A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_150648.2:p.Ile90Thr
CA5091286
NM_033305.3:c.269T>C