ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499253115
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1098789
ClinVar RCV Id:
RCV001420836
RCV001831472
RCV001664869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351.2:p.Ala452Thr
CA6162250
NM_001360.3:c.1354G>A