Canonical Allele Identifier: PA2825037905
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2140354
ClinVar RCV Id: RCV003066827

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000044.2:p.Gly250Arg
CA6989503
NM_000053.4:c.748G>A
CA388041654
NM_000053.4:c.748G>C