ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057247528
Gene: ACTA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Gly247Trp
CA345146750
NM_001100.4:c.739G>T