Canonical Allele Identifier: PA2825037311
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2926677
ClinVar RCV Id: RCV003788915

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Asn602Lys
CA413597248
NM_000052.7:c.1806C>A
CA413597250
NM_000052.7:c.1806C>G