Allele Registry

Canonical Allele Identifier: PA175150

Gene: ABCA3 HGNC NCBI

ClinVar RCV:

RCV000150116

RCV000989468

RCV002453478

ClinVar Variation:

162676

HGVS (amino-acid)	Matching Registered Transcripts
NP_001080.2:p.Asp123Asn	CA175149 NM_001089.3:c.367G>A