Allele Registry

Canonical Allele Identifier: PA645441226

Gene: ABCA3 HGNC NCBI

ClinVar Variation Id: 318496

HGVS (amino-acid)	Matching Registered Transcripts
NP_001080.2:p.Leu707Phe	CA7840945 NM_001089.3:c.2119C>T