Canonical Allele Identifier: PA2741813958
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Met1142Ile
CA401791225
NM_000271.5:c.3426G>T
CA401791226
NM_000271.5:c.3426G>C
CA401791227
NM_000271.5:c.3426G>A