ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580197601
Gene: THSD7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2270512
ClinVar RCV Id:
RCV004129695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303278.1:p.Arg728His
CA1890769
NM_001316349.2:c.2183G>A