Canonical Allele Identifier: PA916069011
Gene: SMN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_075012.1:p.Gly95Arg
CA254690
NM_022874.2:c.283G>C
CA360093339
NM_022874.2:c.283G>A