ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826591377
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1898
ClinVar RCV Id:
RCV000001975
RCV000790794
RCV003421895
RCV003242960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268653.2:p.Arg518Cys
CA220320
NM_001281724.3:c.1552C>T