ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645419144
Gene: AP5Z1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240943
ClinVar RCV Id:
RCV000233083
RCV001079083
RCV001847987
RCV003929988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055670.1:p.Val161Met
CA4137222
NM_014855.3:c.481G>A