Allele Registry

Canonical Allele Identifier: PA098119

Gene: ABCA3 HGNC NCBI

ClinVar RCV:

RCV000008478

ClinVar Variation:

8014

HGVS (amino-acid)	Matching Registered Transcripts
NP_001080.2:p.Gln1591Pro	CA119216 NM_001089.3:c.4772A>C