ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827329520
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
44375
ClinVar RCV:
RCV000029360
RCV000726685
RCV002433470
RCV003407364
ClinVar Variation:
35711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Cys901Arg
CA260132
NM_001330579.2:c.2701T>C