Canonical Allele Identifier: PA2580217910
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2143440
ClinVar RCV Id: RCV003076726
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Thr334Ile
CA6162340
NM_001360.3:c.1001C>T