ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829671066
Gene: AP4B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
695489
ClinVar RCV Id:
RCV001472284
RCV001816926
RCV001849137
RCV002352501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006585.2:p.Ala216Asp
CA1016036
NM_006594.5:c.647C>A