ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827058243
Gene: ACTA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000994476
RCV001858789
ClinVar Variation:
806544
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307784.1:p.Ile371Thr
CA026799
NM_001320855.1:c.1112T>C