ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA221661
Gene: DHCR7
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001351.2:p.Pro51Ser
NM_001360.3:c.151C>T