ClinGen Allele Registry
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Canonical Allele Identifier:
PA916044902
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_001351787.1:p.Val5Met
CA4137222
NM_001364858.1:c.13G>A