Canonical Allele Identifier: PA174172
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 161510
ClinVar RCV Id: RCV000149044
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001080.2:p.Asp696Asn
CA174171
NM_001089.3:c.2086G>A