ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916012671
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11782
ClinVar RCV Id:
RCV000012549
RCV000195239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Ser637Leu
CA256065
NM_001282224.2:c.1910C>T