ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111282
Gene: ACTG1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001186883.1:p.Pro332Ala
NM_001199954.3:c.994C>G