Allele Registry

Canonical Allele Identifier: PA175147

Gene: ABCA3 HGNC NCBI

ClinVar Allele:

176003

ClinVar RCV:

RCV000150114

RCV001117778

RCV001775635

RCV002415634

RCV003398796

ClinVar Variation:

162674

HGVS (amino-acid)	Matching Registered Transcripts
NP_001080.2:p.Arg709Trp	CA175146 NM_001089.3:c.2125C>T