Canonical Allele Identifier: PA2827328253
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2070655
ClinVar RCV Id: RCV002971317
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Gly333Glu
CA6989457
NM_001330579.2:c.998G>A
CA645573971
NM_001330579.2:c.998_999delinsAA