ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580112924
Gene: THBD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1978463
ClinVar RCV Id:
RCV002750998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000352.1:p.Ala546Val
CA408405124
NM_000361.3:c.1637C>T