Canonical Allele Identifier: PA1139683541
Gene: ABCA3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001080.2:p.Asp724Glu
CA7840935
NM_001089.3:c.2172C>G
CA394330796
NM_001089.3:c.2172C>A