ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028270
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000587060
RCV000631248
RCV001263514
RCV002525825
ClinVar Variation:
420002
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Leu641Ser
CA6989172
NM_001330578.2:c.1922T>C