Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2825964139

Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 93723

ClinVar RCV Id: RCV000079659 RCV000380891 RCV001554963 RCV002313767 RCV003925050

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157289.1:p.Ala24Ser	CA147253 NM_001163817.2:c.70G>T