ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964283
Gene: DHCR7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
99623
ClinVar RCV:
RCV000079656
RCV001274683
RCV002313766
ClinVar Variation:
93720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Ala162Val
CA221674
NM_001163817.2:c.485C>T