ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964654
Gene: DHCR7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
99614
ClinVar RCV:
RCV000079645
RCV000411557
ClinVar Variation:
93711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Tyr462His
CA221656
NM_001163817.2:c.1384T>C