ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916048671
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
25044
ClinVar RCV Id:
RCV000021966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357681.1:p.Leu258Val
CA278264
NM_001370752.1:c.772C>G