ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093568
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38278
ClinVar RCV Id:
RCV000021978
RCV000622271
RCV000723564
RCV002298452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000051.1:p.His323Arg
CA220339
NM_000060.4:c.968A>G