ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828156961
Gene: AP5Z1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000433241
RCV000462575
RCV000766950
RCV001848711
RCV002523598
ClinVar Variation:
360343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351787.1:p.Ser499Leu
CA4138240
NM_001364858.1:c.1496C>T