Canonical Allele Identifier: PA645391059
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 371483
ClinVar RCV Id: RCV000410917 RCV003480625
ClinVar Variation Id: 1409871
ClinVar RCV Id: RCV001916111
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000044.2:p.Trp939Cys
CA16041667
NM_000053.4:c.2817G>T
CA388033509
NM_000053.4:c.2817G>C