Allele Registry

Canonical Allele Identifier: PA098140

Gene: ABCA3 HGNC NCBI

ClinVar RCV:

RCV000008477

ClinVar Variation:

8013

HGVS (amino-acid)	Matching Registered Transcripts
NP_001080.2:p.Leu1553Pro	CA119215 NM_001089.3:c.4658T>C