Canonical Allele Identifier: PA645441209
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 227155
ClinVar RCV Id: RCV000219053 RCV000514255 RCV000850152 RCV002444851
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001080.2:p.Arg288Lys
CA7841496
NM_001089.3:c.863G>A