ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827195750
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
25021
ClinVar RCV Id:
RCV000021942
RCV000727575
RCV002298448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310511.1:p.Asn175Asp
CA278225
NM_001323582.1:c.523A>G