Canonical Allele Identifier: PA253944
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6782
ClinVar RCV Id: RCV000007184
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Trp248Cys
CA253942
NM_001360.3:c.744G>T
CA381703365
NM_001360.3:c.744G>C