Canonical Allele Identifier: PA119213
Gene: ABCA3 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001080.2:p.Trp1142Ter
NM_001089.3:c.3425G>A

NM_001089.3:c.3426G>A