ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3064050484
Gene: ACTA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.His75Asp
CA345150528
NM_001100.4:c.223C>G