ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139674936
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
977075
ClinVar RCV Id:
RCV001254597
RCV001751521
RCV002451623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Ile977Thr
CA250077094
NM_001005918.3:c.2930T>C