Canonical Allele Identifier: PA2827329619
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 555818
ClinVar RCV Id: RCV000671715

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Met933Ile
CA6988831
NM_001330579.2:c.2799G>A
CA388031765
NM_001330579.2:c.2799G>T
CA388031766
NM_001330579.2:c.2799G>C