ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580395291
Gene: VPS13D
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056193.2:p.Val4081Ala
CA338489180
NM_015378.4:c.12242T>C