This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: DHCR7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000347717.4:p.Tyr349del
CA381702268
ENST00000355527.8:c.1047C>A
CA381702270
ENST00000355527.8:c.1047C>G
CA381702284
ENST00000355527.8:c.1044C>G
CA381702286
ENST00000355527.8:c.1044C>A
CA939372181
ENST00000355527.8:c.1045_1047del