ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828446157
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2439581
ClinVar RCV Id:
RCV003143832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357587.1:p.Pro372del
CA2580614150
NM_001370658.1:c.1113_1115del