ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106708
Gene: DHCR7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001157289.1:p.Pro51Ser
NM_001163817.2:c.151C>T