ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658826466
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
554771
ClinVar RCV Id:
RCV000670460
RCV001310697
RCV002469248
RCV004026114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Thr993Met
CA6988850
NM_000053.4:c.2978C>T