ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827329554
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
186891
ClinVar RCV:
RCV000169179
RCV000362786
RCV002433726
ClinVar Variation:
188831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Pro908Leu
CA274013
NM_001330579.2:c.2723C>T