ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826362663
Gene: AP4B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393216
ClinVar RCV Id:
RCV000421168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001240781.1:p.Pro77Leu
CA16603385
NM_001253852.3:c.230C>T