ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645391179
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424618
ClinVar RCV Id:
RCV000487452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Cys1079Phe
CA16621524
NM_000053.4:c.3236G>T