ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645499372
Gene: ATP7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000385771
RCV001859571
ClinVar Variation:
282998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Thr574Arg
CA10459092
NM_000052.7:c.1721C>G