ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828156881
Gene: AP5Z1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446847
ClinVar RCV Id:
RCV000517661
RCV001770391
RCV001851423
RCV002525019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351787.1:p.Ala378Val
CA4137936
NM_001364858.1:c.1133C>T