Allele Registry

Canonical Allele Identifier: PA645441229

Gene: ABCA3 HGNC NCBI

ClinVar Variation Id: 318489

HGVS (amino-acid)	Matching Registered Transcripts
NP_001080.2:p.Pro770Leu	CA7840873 NM_001089.3:c.2309C>T