Canonical Allele Identifier: PA2825964255
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 93718
ClinVar RCV Id: RCV000079653 RCV000674435 RCV002354276
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.Val134Leu
CA221668
NM_001163817.2:c.400G>T
CA381694803
NM_001163817.2:c.400G>C