ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825280035
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1948557
ClinVar RCV Id:
RCV002667828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Gly983Val
CA6988635
NM_001005918.3:c.2948G>T