ClinGen Allele Registry
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Canonical Allele Identifier:
PA3073461651
Gene: NPC1L1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037521.2:p.Val55Met
CA4242525
NM_013389.3:c.163G>A