ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826605068
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234270
ClinVar RCV Id:
RCV000876286
RCV001705231
RCV002429079
RCV003937864
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Arg766Cys
CA10459290
NM_001282224.2:c.2296C>T