ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499268478
Gene: SREBF2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004590.2:p.Gly595Ala
NM_004599.4:c.1784G>C