ClinGen Allele Registry
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Canonical Allele Identifier:
PA916048650
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381650
ClinVar RCV Id:
RCV000420327
RCV000675128
RCV001251699
RCV001731677
RCV004022351
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357681.1:p.Asp202Asn
CA2277359
NM_001370752.1:c.604G>A