Canonical Allele Identifier: PA1139700495
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 839516
ClinVar RCV Id: RCV001041290
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Trp313Cys
CA381702924
NM_001360.3:c.939G>T
CA381702925
NM_001360.3:c.939G>C