ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964271
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166988
ClinVar RCV Id:
RCV000179381
RCV000790776
RCV003917496
RCV002312988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Thr154Arg
CA233884
NM_001163817.2:c.461C>G