ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA278202
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
36343
ClinVar RCV:
RCV000021924
RCV000490188
RCV002513163
RCV003226165
ClinVar Variation:
25005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000051.1:p.Arg148His
CA278201
NM_000060.4:c.443G>A