Canonical Allele Identifier: PA2826638138
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 968940
ClinVar RCV Id: RCV001244182

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Thr1024Ser
CA10459405
NM_001282224.2:c.3070A>T
CA413603861
NM_001282224.2:c.3071C>G