ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829812799
Gene: VPS13A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000368612
RCV000861046
RCV001579965
RCV003922655
ClinVar Variation:
367413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056001.1:p.Ile2486Thr
CA5093361
NM_015186.4:c.7457T>C