ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827326679
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_001317507.1:p.Ile1024Thr
CA6988743
NM_001330578.2:c.3071T>C