ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825037078
Gene: ATP7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002900480
ClinVar Variation:
2045277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Ile308Met
CA413601430
NM_000052.7:c.924A>G