ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916006174
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
371498
ClinVar RCV Id:
RCV000411980
RCV001508707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Val995Asp
CA6988740
NM_001243182.2:c.2984T>A