ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139670462
Gene: ATP7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Met1246Val
CA413604852
NM_000052.7:c.3736A>G