Canonical Allele Identifier: PA645486049
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 285508
ClinVar RCV Id: RCV000324086 RCV000763767 RCV002379131
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Arg457Gln
CA10605135
NM_001360.3:c.1370G>A