ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915965610
Gene: HSD11B2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
804920
ClinVar RCV Id:
RCV000992171
RCV002488090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000187.3:p.Asp317Asn
CA8110786
NM_000196.4:c.949G>A