ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828445687
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38487
ClinVar RCV Id:
RCV000021895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357587.1:p.Val42Met
CA278152
NM_001370658.1:c.124G>A