ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827240945
Gene: CYP7B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2124555
ClinVar RCV Id:
RCV003057221
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311041.1:p.Ser174Ile
CA371335564
NM_001324112.2:c.521G>T