ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499245199
Gene: ATP7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Thr376Lys
CA413601868
NM_001282224.2:c.1127C>A