ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916012648
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282998
ClinVar RCV Id:
RCV000385771
RCV001859571
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Thr574Arg
CA10459092
NM_001282224.2:c.1721C>G