ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827328737
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1979422
ClinVar RCV Id:
RCV002766293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Tyr594Cys
CA250061586
NM_001330579.2:c.1781A>G