Canonical Allele Identifier: PA658807118
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 500764
ClinVar RCV Id: RCV000593358 RCV000674146 RCV001267309
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Glu288Lys
CA6162412
NM_001360.3:c.862G>A