ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828156872
Gene: AP5Z1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
412233
ClinVar RCV Id:
RCV000476354
RCV001508573
RCV001848820
RCV004525935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351787.1:p.Lys369Gln
CA4137875
NM_001364858.1:c.1105A>C