Canonical Allele Identifier: PA3070942486
Gene: SMN2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_059107.1:p.Thr274Ser
CA360086546
NM_017411.4:c.820A>T
CA360086548
NM_017411.4:c.821C>G