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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Val250Leu
CA349073620
NM_001353954.2:c.748G>C
CA349073622
NM_001353954.2:c.748G>T