ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827326901
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
555617
ClinVar RCV Id:
RCV000671472
RCV001805793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Ala1119Thr
CA6988627
NM_001330578.2:c.3355G>A