ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573167853
Gene: THBD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1554835
ClinVar RCV Id:
RCV002192523
RCV002507893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000352.1:p.Thr506Asn
CA9787538
NM_000361.3:c.1517C>A