ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827328329
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1942624
ClinVar RCV Id:
RCV002646893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Ala371Thr
CA388038962
NM_001330579.2:c.1111G>A