ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916048662
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
801946
ClinVar RCV Id:
RCV000987132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357681.1:p.Ile235Met
CA351607143
NM_001370752.1:c.705C>G