ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826351151
Gene: AP4E1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240837
ClinVar RCV Id:
RCV000232082
RCV002293430
RCV003987469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001239056.1:p.Val543Ile
CA7559184
NM_001252127.2:c.1627G>A