ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825036859
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002664044
RCV004072109
ClinVar Variation:
2202272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Cys19Tyr
CA10458878
NM_000052.7:c.56G>A