Canonical Allele Identifier: PA645485341
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 397518
ClinVar RCV Id: RCV000449598 RCV000728279 RCV002374732 RCV003418143
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Gly30Ala
CA6162711
NM_001360.3:c.89G>C