ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964139
Gene: DHCR7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
99626
ClinVar RCV:
RCV000079659
RCV000380891
RCV001554963
RCV002313767
RCV003925050
ClinVar Variation:
93723
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Ala24Ser
CA147253
NM_001163817.2:c.70G>T