ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827326651
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456556
ClinVar RCV Id:
RCV000548917
RCV003480668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Gln1017Pro
CA388028728
NM_001330578.2:c.3050A>C