ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964185
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93714
ClinVar RCV Id:
RCV000509217
RCV000681711
RCV002313765
RCV003987353
RCV003415846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Ala67Thr
CA221662
NM_001163817.2:c.199G>A