ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827324735
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431956
ClinVar RCV Id:
RCV000755833
RCV001239682
RCV001532891
RCV003925432
RCV004023329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Ile116Thr
CA6989581
NM_001330578.2:c.347T>C