ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3075625948
Gene: VPS13A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056001.1:p.Ile90Thr
CA5091286
NM_015186.4:c.269T>C