ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826863084
Gene: AP2S1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450031
ClinVar RCV Id:
RCV000523584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288010.1:p.Leu103Pro
CA406507996
NM_001301081.3:c.308T>C