ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826591372
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268653.2:p.Ala514Val
CA351962542
NM_001281724.3:c.1541C>T