ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463175
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
343911
ClinVar RCV Id:
RCV000358739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000051.1:p.Pro392Ser
CA10617574
NM_000060.4:c.1174C>T