ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916048639
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
25026
ClinVar RCV Id:
RCV000021947
RCV000985649
RCV003415728
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357681.1:p.Val179Met
CA278235
NM_001370752.1:c.535G>A