Canonical Allele Identifier: PA645441146
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 228321
ClinVar RCV Id: RCV000221771 RCV001804948 RCV002381741 RCV003556277
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001080.2:p.Arg43His
CA7841779
NM_001089.3:c.128G>A