ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499279371
Gene: AP5Z1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1028039
ClinVar RCV:
RCV001348528
RCV001847249
RCV003318682
ClinVar Variation:
1044302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055670.1:p.Arg523Cys
CA4137872
NM_014855.3:c.1567C>T