Canonical Allele Identifier: PA2573160072
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 1502164
ClinVar RCV Id: RCV002045107

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000044.2:p.Phe714Leu
CA388023344
NM_000053.4:c.2142C>G
CA388023345
NM_000053.4:c.2142C>A
CA388023361
NM_000053.4:c.2140T>C