Canonical Allele Identifier: PA2829999063
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9164
ClinVar RCV Id: RCV000009734 RCV000009735 RCV000517430
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_075012.1:p.Thr242Ile
CA254673
NM_022874.2:c.725C>T