ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828449274
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38567
ClinVar RCV Id:
RCV000021905
RCV003125847
RCV003993755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357682.1:p.Arg59His
CA278166
NM_001370753.1:c.176G>A