ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891846958
Gene: ACTA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000698258
ClinVar Variation:
575911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Pro335Leu
CA345144942
NM_001100.4:c.1004C>T