Canonical Allele Identifier: PA2825964560
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 594428
ClinVar RCV Id: RCV000729705 RCV001830604 RCV002332528 RCV003155296
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.His390Tyr
CA6162294
NM_001163817.2:c.1168C>T