ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916012704
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210439
ClinVar RCV Id:
RCV000194077
RCV000543168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Pro923Leu
CA277255
NM_001282224.2:c.2768C>T