Canonical Allele Identifier: PA2499245186
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1101870
ClinVar RCV Id: RCV001424970

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Phe678Leu
CA10459189
NM_001282224.2:c.2032T>C
CA413598266
NM_001282224.2:c.2034T>A
CA413598267
NM_001282224.2:c.2034T>G