ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826590562
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
25004
ClinVar RCV Id:
RCV000021923
RCV000438885
RCV001266904
RCV003904859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268653.2:p.Pro122Thr
CA278199
NM_001281724.3:c.364C>A