ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825964299
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2137194
ClinVar RCV Id:
RCV003058338
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Ile178Asn
CA381694480
NM_001163817.2:c.533T>A