ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658812048
Gene: AP4E1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128401
ClinVar RCV Id:
RCV000116365
RCV000600841
RCV001520602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001239056.1:p.Cys88Arg
CA151847
NM_001252127.2:c.262T>C