ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825037932
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
959647
ClinVar RCV Id:
RCV001233033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Gly280Asp
CA388040995
NM_000053.4:c.839G>A