ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827326257
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
44372
ClinVar RCV:
RCV000029357
RCV000078044
RCV001357476
RCV002433468
ClinVar Variation:
35708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Arg874Lys
CA145676
NM_001330578.2:c.2621G>A