Canonical Allele Identifier: PA2741813967
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Leu1244Pro
CA401790539
NM_000271.5:c.3731T>C
CA3268250795
NM_000271.5:c.3731_3732delinsCT