ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645462585
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
385308
ClinVar RCV Id:
RCV000755884
RCV000876680
RCV002521735
RCV003912709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000051.1:p.Gln88Glu
CA2277272
NM_000060.4:c.262C>G