Allele Registry

Canonical Allele Identifier: PA645441151

Gene: ABCA3 HGNC NCBI

ClinVar RCV:

RCV000288211

RCV000894058

RCV002392865

RCV003957647

ClinVar Variation:

318576

HGVS (amino-acid)	Matching Registered Transcripts
NP_001080.2:p.Ala54Thr	CA7841771 NM_001089.3:c.160G>A