ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828156950
Gene: AP5Z1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360340
ClinVar RCV Id:
RCV000352753
RCV001848709
RCV003970056
RCV003480620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351787.1:p.Val490Met
CA4138189
NM_001364858.1:c.1468G>A