ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475977
Gene: ACTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381642
ClinVar RCV Id:
RCV000428254
RCV002519526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Met46Thr
CA16603510
NM_001100.4:c.137T>C