ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827195641
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
46851
ClinVar RCV:
RCV000021905
RCV003125847
RCV003993755
ClinVar Variation:
38567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310511.1:p.Arg59His
CA278166
NM_001323582.1:c.176G>A