ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741808923
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2571440
ClinVar RCV Id:
RCV003312840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Leu1100Pro
CA413603849
NM_000052.7:c.3299T>C