ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573206582
Gene: DHCR7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001972582
RCV003418255
ClinVar Variation:
1457187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351.2:p.Gly410Arg
CA381701371
NM_001360.3:c.1228G>C