ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826318591
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
487514
ClinVar RCV:
RCV000590198
RCV003609157
ClinVar Variation:
495419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Gly1244Val
CA388020155
NM_001243182.2:c.3731G>T