Allele Registry

Canonical Allele Identifier: PA645499563

Gene: ATP7A HGNC NCBI

ClinVar RCV:

RCV000484292

RCV001265560

ClinVar Variation:

423830

HGVS (amino-acid)	Matching Registered Transcripts
NP_000043.4:p.Thr1046Ile	CA16621511 NM_000052.7:c.3137C>T