ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826589732
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
36363
ClinVar RCV:
RCV000021947
RCV000985649
RCV003415728
ClinVar Variation:
25026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268652.2:p.Val179Met
CA278235
NM_001281723.3:c.535G>A