Allele Registry

Canonical Allele Identifier: PA182811

Gene: ABCA3 HGNC NCBI

ClinVar RCV:

RCV000155457

RCV000758248

RCV001517013

RCV002390351

ClinVar Variation:

178700

HGVS (amino-acid)	Matching Registered Transcripts
NP_001080.2:p.Ala501Glu	CA182810 NM_001089.3:c.1502C>A