ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826591206
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1900
ClinVar RCV Id:
RCV000001977
RCV000078064
RCV002381235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268653.2:p.Asp424His
CA090886
NM_001281724.3:c.1270G>C