ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139727609
Gene: NPC1L1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_037521.2:p.Arg406Ter
NM_013389.3:c.1216C>T