Canonical Allele Identifier: PA175147
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 162674
ClinVar RCV Id: RCV000150114 RCV001117778 RCV001775635 RCV002415634 RCV003398796
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001080.2:p.Arg709Trp
CA175146
NM_001089.3:c.2125C>T