Canonical Allele Identifier: PA220095
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 88776
ClinVar RCV Id: RCV000074418
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001080.2:p.Ala823Pro
CA220094
NM_001089.3:c.2467G>C