Canonical Allele Identifier: PA091947
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 157933
ClinVar RCV Id: RCV000145256 RCV000415012 RCV000498564 RCV000855573 RCV002415630
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000044.2:p.Met665Ile
CA271169
NM_000053.4:c.1995G>A
CA388025730
NM_000053.4:c.1995G>T
CA388025737
NM_000053.4:c.1995G>C