ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826591480
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
36329
ClinVar RCV:
RCV000021909
ClinVar Variation:
24991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268654.1:p.Leu63Ser
CA278175
NM_001281725.2:c.188T>C