Canonical Allele Identifier: PA2826638147
Gene: ATP7A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Ser1042Arg
CA413603976
NM_001282224.2:c.3124A>C
CA413603981
NM_001282224.2:c.3126C>A
CA413603982
NM_001282224.2:c.3126C>G