ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829177558
Gene: SREBF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001375318.1:p.Ala848Val
CA8419618
NM_001388389.1:c.2543C>T