ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028407
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424618
ClinVar RCV Id:
RCV000487452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Cys995Phe
CA16621524
NM_001330579.2:c.2984G>T