ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825037930
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
847832
ClinVar RCV Id:
RCV001051461
RCV003326532
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Ile279Val
CA388041043
NM_000053.4:c.835A>G