ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA256078
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000012562
RCV000789728
RCV001206423
RCV001696176
ClinVar Variation:
11795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Pro1386Ser
CA256077
NM_000052.7:c.4156C>T