ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645499365
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392682
ClinVar RCV Id:
RCV000430636
RCV001454784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Glu544Gln
CA10459074
NM_000052.7:c.1630G>C