ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825964297
Gene: DHCR7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000665387
ClinVar Variation:
550600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Asp175Asn
CA6162541
NM_001163817.2:c.523G>A