ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA206237
Gene: ATP7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000043.4:p.Ile506Val
NM_000052.7:c.1516A>G