ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA179761
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166709
ClinVar RCV Id:
RCV000152813
RCV000532853
RCV002277300
RCV002316960
RCV003927477
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Ile1464Val
CA179760
NM_000052.7:c.4390A>G