ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645499554
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392215
ClinVar RCV Id:
RCV000429551
RCV001080223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Val1038Ile
CA10459383
NM_000052.7:c.3112G>A