ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826862948
Gene: AP2S1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39424
ClinVar RCV Id:
RCV000032619
RCV001228882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288007.1:p.Arg15Cys
CA130281
NM_001301078.2:c.43C>T