ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826591311
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
36428
ClinVar RCV:
RCV000022019
RCV000078068
ClinVar Variation:
25094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268653.2:p.Pro477Ser
CA220317
NM_001281724.3:c.1429C>T