Canonical Allele Identifier: PA645485549
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 430220
ClinVar RCV Id: RCV000493359 RCV000668765 RCV002271516
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Tyr219Asp
CA6162499
NM_001360.3:c.655T>G