ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106739
Gene: DHCR7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001157289.1:p.Ser397Leu
NM_001163817.2:c.1190C>T