ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827328980
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
44370
ClinVar RCV:
RCV000029355
RCV000078041
RCV002444440
ClinVar Variation:
35706
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Met685Val
CA171300
NM_001330579.2:c.2053A>G