ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826362974
Gene: AP4B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2041494
ClinVar RCV Id:
RCV002891136
RCV003375709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001240782.1:p.Leu175Phe
CA1016005
NM_001253853.3:c.523C>T