ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826605679
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_001269153.1:p.Ile1386Val
CA179760
NM_001282224.2:c.4156A>G