Canonical Allele Identifier: PA2827328378
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2189763
ClinVar RCV Id: RCV002611801
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Val392Leu
CA6989423
NM_001330579.2:c.1174G>T
CA388038564
NM_001330579.2:c.1174G>C