ClinGen Allele Registry
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Canonical Allele Identifier:
PA916048617
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
432549
ClinVar RCV:
RCV000506930
RCV001315219
ClinVar Variation:
439035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357587.1:p.Arg518Leu
CA351962560
NM_001370658.1:c.1553G>T