ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645499293
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000414022
RCV000530559
RCV001828381
RCV002436234
RCV003144246
ClinVar Variation:
372700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Thr93Met
CA10458904
NM_000052.7:c.278C>T