ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580376944
Gene: AP5Z1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055670.1:p.Ala139Val
CA4137204
NM_014855.3:c.416C>T