ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028269
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500690
ClinVar RCV Id:
RCV000597891
RCV000670760
RCV002307558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.His639Tyr
CA6989174
NM_001330578.2:c.1915C>T