ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826318205
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424618
ClinVar RCV Id:
RCV000487452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Cys968Phe
CA16621524
NM_001243182.2:c.2903G>T