Canonical Allele Identifier: PA221649
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 93706
ClinVar RCV Id: RCV000079638 RCV000585931 RCV001027947 RCV002313764 RCV003915058
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Val338Met
CA221647
NM_001360.3:c.1012G>A