ClinGen Allele Registry
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Canonical Allele Identifier:
PA277042
Gene: ATP7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
209261
ClinVar RCV:
RCV000192884
RCV000757015
RCV000999938
RCV001085085
RCV002277450
RCV002433862
RCV003907676
ClinVar Variation:
210436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Glu968Gly
CA277041
NM_000052.7:c.2903A>G