ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099077
Gene: THBD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013557
RCV000899504
RCV001328104
RCV003313772
RCV003944819
ClinVar Variation:
12720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000352.1:p.Pro495Ser
CA256543
NM_000361.3:c.1483C>T