ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825279839
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3072896
ClinVar RCV Id:
RCV004014910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Met818Thr
CA388030698
NM_001005918.3:c.2453T>C