Canonical Allele Identifier: PA2580187555
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2090038
ClinVar RCV Id: RCV003005753
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Leu714Phe
CA10459202
NM_001282224.2:c.2142G>C
CA413598510
NM_001282224.2:c.2142G>T