ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499253251
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1076651
ClinVar RCV Id:
RCV001390625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351.2:p.Tyr432Cys
CA381701018
NM_001360.3:c.1295A>G