Allele Registry

Canonical Allele Identifier: PA145664

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000078034

RCV000990880

RCV001274024

RCV001554147

RCV001554148

RCV001811355

RCV002311546

ClinVar Variation:

92382

HGVS (amino-acid)	Matching Registered Transcripts
NP_000043.4:p.Val767Leu	CA145663 NM_000052.7:c.2299G>C