ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827329973
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188900
ClinVar RCV Id:
RCV000169260
RCV002254281
RCV002453567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Gly1102Ser
CA274098
NM_001330579.2:c.3304G>A