ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827195659
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
36331
ClinVar RCV:
RCV000021911
ClinVar Variation:
24993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310511.1:p.Tyr73Cys
CA278179
NM_001323582.1:c.218A>G