ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741808861
Gene: ATP7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Thr818Ile
CA413599973
NM_000052.7:c.2453C>T