Canonical Allele Identifier: PA341826
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 21274
ClinVar RCV Id: RCV000020437 RCV002345251 RCV001818169
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Ser169Leu
CA341824
NM_001360.3:c.506C>T