ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829482859
Gene: SREBF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004167.3:p.Arg527His
CA398564815
NM_004176.5:c.1580G>A