ClinGen Allele Registry
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Canonical Allele Identifier:
PA916012664
Gene: ATP7A
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001269153.1:p.Leu625Ter
NM_001282224.2:c.1874T>A
NM_001282224.2:c.1874T>G