ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825279750
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
44374
ClinVar RCV:
RCV000029359
RCV000790662
RCV002433469
RCV003924861
ClinVar Variation:
35710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Thr770Met
CA220308
NM_001005918.3:c.2309C>T