ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499237704
Gene: ACTA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Pro334Arg
CA345144971
NM_001100.4:c.1001C>G