ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA208434
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210480
ClinVar RCV Id:
RCV000194327
RCV002503752
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Ile377Val
CA208433
NM_000053.4:c.1129A>G