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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000407030.2:p.[Met1665del;Leu1667Val;Ala1669_Leu1679delinsSerCysVal;Met1681_Tyr1694del]
CA2563919715
ENST00000423058.6:c.4993_4994insG