ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA221652
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21272
ClinVar RCV Id:
RCV000020434
RCV000079640
RCV002316198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351.2:p.Gly410Ser
CA221650
NM_001360.3:c.1228G>A