ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827325918
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285881
ClinVar RCV Id:
RCV000327770
RCV001242406
RCV001582911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Arg749Trp
CA6988994
NM_001330578.2:c.2245C>T