ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915955067
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312380
ClinVar RCV Id:
RCV000372640
RCV000780935
RCV003151766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Pro934Arg
CA6988687
NM_001005918.3:c.2801C>G