ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828156876
Gene: AP5Z1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240937
ClinVar RCV Id:
RCV000232141
RCV001847984
RCV003258712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351787.1:p.Ala373Thr
CA4137882
NM_001364858.1:c.1117G>A