ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828156746
Gene: AP5Z1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351787.1:p.Ser192Phe
CA4137575
NM_001364858.1:c.575C>T