ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028288
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188781
ClinVar RCV Id:
RCV000169109
RCV001508716
RCV001814079
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Ala925Val
CA273949
NM_001330578.2:c.2774C>T