ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139726447
Gene: ACTC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
948806
ClinVar RCV Id:
RCV001220136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005150.1:p.Tyr308His
CA391629420
NM_005159.5:c.922T>C