ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645499621
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_000043.4:p.Ile1189Val
CA10459435
NM_000052.7:c.3565A>G