ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826591027
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
343909
ClinVar RCV Id:
RCV000262752
RCV000437667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268653.2:p.Asp348Ala
CA10615137
NM_001281724.3:c.1043A>C