ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645499433
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284222
ClinVar RCV Id:
RCV000725407
RCV001085214
RCV002314011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Arg652Gln
CA10459180
NM_000052.7:c.1955G>A