Canonical Allele Identifier: PA3082819163
Gene: ABCA3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001080.2:p.Trp1142Cys
CA394316613
NM_001089.3:c.3426G>T
CA394316614
NM_001089.3:c.3426G>C