ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827195931
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001959733
ClinVar Variation:
1431894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310511.1:p.Asn382Asp
CA2277435
NM_001323582.1:c.1144A>G