ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580187495
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1717832
ClinVar RCV Id:
RCV002297832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Lys603Arg
CA413597265
NM_001282224.2:c.1808A>G