Canonical Allele Identifier: PA658807104
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 499993
ClinVar RCV Id: RCV000596201 RCV000671914
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Glu224Lys
CA6162492
NM_001360.3:c.670G>A