ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341829
Gene: DHCR7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000020438
RCV000389331
RCV002371778
ClinVar Variation:
21275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351.2:p.Arg242Cys
CA341827
NM_001360.3:c.724C>T