ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA106728
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21274
ClinVar RCV Id:
RCV000020437
RCV002345251
RCV001818169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Ser169Leu
CA341824
NM_001163817.2:c.506C>T