Canonical Allele Identifier: PA2825964456
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 198773
ClinVar RCV Id: RCV000180217 RCV000724095 RCV002252024 RCV002372105 RCV003907631
ClinVar Variation Id: 2793342
ClinVar RCV Id: RCV003618247
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.Gly303Arg
CA275430
NM_001163817.2:c.907G>A
CA381703000
NM_001163817.2:c.907G>C