ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825038388
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2419971
ClinVar RCV Id:
RCV003118496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Ile739Val
CA388022628
NM_000053.4:c.2215A>G