ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827325211
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3072443
ClinVar RCV Id:
RCV004013465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Met380Thr
CA388038782
NM_001330578.2:c.1139T>C