Canonical Allele Identifier: PA246032
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 197725
ClinVar RCV Id: RCV000178841 RCV000297594 RCV002314649 RCV003488428
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Val126Ile
CA246030
NM_001360.3:c.376G>A