ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916028306
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000395391
RCV000506750
RCV001558379
RCV002321983
ClinVar Variation:
312383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Gly983Glu
CA6988785
NM_001330578.2:c.2948G>A