ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828449273
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2501355
ClinVar RCV Id:
RCV003227150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357682.1:p.Ala55Ser
CA351603450
NM_001370753.1:c.163G>T