ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA127774
Gene: ACE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000780.1:p.Pro1228Leu
NM_000789.4:c.3683C>T