ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825038656
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
949397
ClinVar RCV Id:
RCV001220850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Gly1030Ser
CA388030552
NM_000053.4:c.3088G>A