ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828448681
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
24993
ClinVar RCV Id:
RCV000021911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357681.1:p.Tyr73Cys
CA278179
NM_001370752.1:c.218A>G