Allele Registry

Canonical Allele Identifier: PA645441244

Gene: ABCA3 HGNC NCBI

ClinVar RCV:

RCV000400735

RCV002356426

RCV002522830

ClinVar Variation:

318401

HGVS (amino-acid)	Matching Registered Transcripts
NP_001080.2:p.Arg1343Trp	CA7840302 NM_001089.3:c.4027C>T