ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829977823
Gene: AP2S1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_067586.1:p.Arg15Leu
CA130282
NM_021575.5:c.44G>T