ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916012616
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
391862
ClinVar RCV Id:
RCV000426016
RCV001089330
RCV002282146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Arg344Gly
CA10458986
NM_001282224.2:c.1030A>G