Canonical Allele Identifier: PA645485340
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 290943
ClinVar RCV Id: RCV000336499

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Gln28His
CA10606954
NM_001360.3:c.84G>T
CA381696878
NM_001360.3:c.84G>C