Canonical Allele Identifier: PA2827329755
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 1380744
ClinVar RCV Id: RCV001886445
ClinVar Variation Id: 1459893
ClinVar RCV Id: RCV001951314
ClinVar Variation Id: 1494636
ClinVar RCV Id: RCV001989496

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Phe1010Leu
CA388028751
NM_001330579.2:c.3030C>G
CA388028758
NM_001330579.2:c.3030C>A
CA388028775
NM_001330579.2:c.3028T>C