Canonical Allele Identifier: PA248061
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 199067
ClinVar RCV Id: RCV000513082 RCV002054152
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Gly424Ser
CA248059
NM_001360.3:c.1270G>A