ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390752
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312396
ClinVar RCV Id:
RCV000313711
RCV000425182
RCV001269200
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Glu247Gly
CA6989506
NM_000053.4:c.740A>G