ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916028308
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157945
ClinVar RCV Id:
RCV000145270
RCV000675167
RCV001508710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Ala985Val
CA171310
NM_001330578.2:c.2954C>T