ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827326988
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312379
ClinVar RCV Id:
RCV000331049
RCV000455157
RCV000757022
RCV002522293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Ile1152Val
CA6988609
NM_001330578.2:c.3454A>G