ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092016
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35712
ClinVar RCV Id:
RCV000029361
RCV000505878
RCV000255583
RCV002513236
RCV003904863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Thr991Met
CA090896
NM_000053.4:c.2972C>T