ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658674633
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
465113
ClinVar RCV Id:
RCV000555196
RCV001508049
RCV002431615
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Glu840Val
CA10459289
NM_000052.7:c.2519A>T