ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826362737
Gene: AP4B1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
364370
ClinVar RCV:
RCV000425918
RCV000463656
RCV001251671
RCV001821192
RCV001848780
RCV002313102
RCV003912733
ClinVar Variation:
386852
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001240781.1:p.Val252Ala
CA1016017
NM_001253852.3:c.755T>C