ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826605410
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245706
ClinVar RCV Id:
RCV000236093
RCV000878391
RCV002277594
RCV002450722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Ile1111Val
CA10459435
NM_001282224.2:c.3331A>G