ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915967751
Gene: ACTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
636712
ClinVar RCV Id:
RCV000788620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Ala349Val
CA345144633
NM_001100.4:c.1046C>T