ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091920
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
424263
ClinVar RCV:
RCV000495835
RCV003480655
ClinVar Variation:
430725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Ile1102Thr
CA6988743
NM_000053.4:c.3305T>C