ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825279581
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
186900
ClinVar RCV:
RCV000169151
ClinVar Variation:
188814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Leu633Phe
CA273992
NM_001005918.3:c.1897C>T