ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828446358
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
25097
ClinVar RCV Id:
RCV000022022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357587.1:p.Gln491Glu
CA278352
NM_001370658.1:c.1471C>G