ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826318231
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2627196
ClinVar RCV Id:
RCV003388390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Cys993Phe
CA388028466
NM_001243182.2:c.2978G>T