Canonical Allele Identifier: PA913194927
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 595131
ClinVar RCV Id: RCV000730597 RCV001835942 RCV002386299
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Gly456Ser
CA6162247
NM_001360.3:c.1366G>A