Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2828448578

Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 38483

ClinVar RCV Id: RCV000022030 RCV001251701 RCV002513289

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357681.1:p.His23Arg	CA278364 NM_001370752.1:c.68A>G