Canonical Allele Identifier: PA2580138206
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2152257
ClinVar RCV Id: RCV003079202

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001080.2:p.Asn14Lys
CA394353301
NM_001089.3:c.42C>G
CA394353302
NM_001089.3:c.42C>A