Canonical Allele Identifier: PA253941
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6781
ClinVar RCV Id: RCV000007183 RCV001804715
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Gly244Arg
CA253939
NM_001360.3:c.730G>A
CA381703392
NM_001360.3:c.730G>C