ClinGen Allele Registry
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Canonical Allele Identifier:
PA916048593
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
452267
ClinVar RCV:
RCV000524591
RCV001578266
RCV002282207
ClinVar Variation:
458806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357587.1:p.Tyr434Cys
CA2277463
NM_001370658.1:c.1301A>G