ClinGen Allele Registry
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Canonical Allele Identifier:
PA645419189
Gene: AP5Z1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360320
ClinVar RCV Id:
RCV001086510
RCV000710609
RCV001848705
RCV002523597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055670.1:p.Arg294Gln
CA4137439
NM_014855.3:c.881G>A