Canonical Allele Identifier: PA1139724954
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 861481

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Met368Ile
CA388039004
NM_001330579.2:c.1104G>T
CA388039006
NM_001330579.2:c.1104G>C
CA388039010
NM_001330579.2:c.1104G>A