ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827324937
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312398
ClinVar RCV Id:
RCV000259729
RCV000755836
RCV000779819
RCV002520888
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Ile224Phe
CA6989518
NM_001330578.2:c.670A>T