Canonical Allele Identifier: PA253948
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6789
ClinVar RCV Id: RCV000007191 RCV000412788 RCV002371766
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Thr289Ile
CA253946
NM_001360.3:c.866C>T