Canonical Allele Identifier: PA2827329781
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 188808
ClinVar RCV Id: RCV000169142
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Gly1017Arg
CA273987
NM_001330579.2:c.3049G>A
CA388028531
NM_001330579.2:c.3049G>C