ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916044905
Gene: AP5Z1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360313
ClinVar RCV Id:
RCV000710608
RCV001087428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351787.1:p.His39Arg
CA4137269
NM_001364858.1:c.116A>G