ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830355406
Gene: ABCA12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775099.2:p.Ser1157Leu
CA2091728
NM_173076.3:c.3470C>T