ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028306
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312383
ClinVar RCV Id:
RCV000506750
RCV000395391
RCV002321983
RCV001558379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Gly983Glu
CA6988785
NM_001330578.2:c.2948G>A