Canonical Allele Identifier: PA340617
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6788
ClinVar RCV Id: RCV000007190 RCV000723830 RCV001266513 RCV003407290
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Arg404Cys
CA340615
NM_001360.3:c.1210C>T