ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113506
Gene: AP2S1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004060.2:p.Arg15His
CA130283
NM_004069.6:c.44G>A