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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011524317.1:p.Ser389Arg
CA8913420
XM_011526015.1:c.1167T>A
CA401774869
XM_011526015.1:c.1167T>G
CA401774874
XM_011526015.1:c.1165A>C