ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139691711
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
840455
ClinVar RCV Id:
RCV001042449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Ser585Gly
CA413596979
NM_001282224.2:c.1753A>G