ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA274424
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189149
ClinVar RCV Id:
RCV000169572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Leu1299Phe
CA274423
NM_000053.4:c.3895C>T