ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658820572
Gene: AP4E1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
527994
ClinVar RCV Id:
RCV000633038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031373.2:p.Lys75Gln
CA7558702
NM_007347.5:c.223A>C