Allele Registry

Canonical Allele Identifier: PA119219

Gene: ABCA3 HGNC NCBI

ClinVar RCV:

RCV000008481

RCV000602710

ClinVar Variation:

8017

HGVS (amino-acid)	Matching Registered Transcripts
NP_001080.2:p.Leu326Pro	CA119218 NM_001089.3:c.977T>C