ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068372648
Gene: SCAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036367.2:p.Val798Phe
CA352546956
NM_012235.4:c.2392G>T