Canonical Allele Identifier: PA2827329879
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 370151
ClinVar RCV Id: RCV000409630 RCV002469139
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Gln1058His
CA6988685
NM_001330579.2:c.3174G>C
CA250077293
NM_001330579.2:c.3174G>T