Allele Registry

Canonical Allele Identifier: PA091963

Gene: ATP7B HGNC NCBI

ClinVar Allele:

186891

ClinVar RCV:

RCV000169179

RCV000362786

RCV002433726

ClinVar Variation:

188831

HGVS (amino-acid)	Matching Registered Transcripts
NP_000044.2:p.Pro992Leu	CA274013 NM_000053.4:c.2975C>T