ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091989
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
186893
ClinVar RCV:
RCV000169002
RCV001509440
ClinVar Variation:
188713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Thr935Met
CA273878
NM_000053.4:c.2804C>T