ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091919
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500690
ClinVar RCV Id:
RCV000597891
RCV000670760
RCV002307558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.His639Tyr
CA6989174
NM_000053.4:c.1915C>T