ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827326787
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1946981
ClinVar RCV Id:
RCV002685383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Glu1074Lys
CA388026608
NM_001330578.2:c.3220G>A