ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA182811
Gene: ABCA3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001080.2:p.Ala501Glu
CA182810
NM_001089.3:c.1502C>A