Canonical Allele Identifier: PA1139683699
Gene: ABCA3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001080.2:p.Asn1076Lys
CA394319336
NM_001089.3:c.3228C>G
CA394319338
NM_001089.3:c.3228C>A