ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825036985
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1409781
ClinVar RCV Id:
RCV001916042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.His183Arg
CA413600261
NM_000052.7:c.548A>G