ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826317612
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
487715
ClinVar RCV:
RCV000587250
RCV001001851
RCV001003423
RCV002530885
RCV003905504
ClinVar Variation:
495404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Met554Val
CA6989142
NM_001243182.2:c.1660A>G