ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827324975
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3075066
ClinVar RCV Id:
RCV004015592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Gly253Ala
CA388041584
NM_001330578.2:c.758G>C