ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499279381
Gene: AP5Z1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055670.1:p.Arg792His
CA4138456
NM_014855.3:c.2375G>A