ClinGen Allele Registry
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Canonical Allele Identifier:
PA233886
Gene: DHCR7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
177006
ClinVar RCV:
RCV000179381
RCV000790776
RCV002312988
RCV003917496
ClinVar Variation:
166988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351.2:p.Thr154Arg
CA233884
NM_001360.3:c.461C>G