Canonical Allele Identifier: PA658826469
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 555818
ClinVar RCV Id: RCV000671715

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000044.2:p.Met1017Ile
CA6988831
NM_000053.4:c.3051G>A
CA388031765
NM_000053.4:c.3051G>T
CA388031766
NM_000053.4:c.3051G>C