ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825279193
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1982170
ClinVar RCV Id:
RCV002766624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Val285Ile
CA388040902
NM_001005918.3:c.853G>A