Canonical Allele Identifier: PA645441243
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 318402
ClinVar RCV Id: RCV000315299 RCV002520994 RCV003155158 RCV002356427 RCV003950084
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001080.2:p.Ala1338Thr
CA7840309
NM_001089.3:c.4012G>A