ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825038639
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2083623
ClinVar RCV Id:
RCV003002678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Ala1018Glu
CA388031755
NM_000053.4:c.3053C>A