Canonical Allele Identifier: PA916028312
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 3848
ClinVar RCV Id: RCV000004052 RCV000078049 RCV002321470
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317507.1:p.His991Gln
CA220309
NM_001330578.2:c.2973C>A
CA388029876
NM_001330578.2:c.2973C>G