ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645499721
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
243114
ClinVar RCV Id:
RCV000236986
RCV000877920
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Arg1455Gln
CA10459548
NM_000052.7:c.4364G>A