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: PA916048645

Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25031

ClinVar RCV Id: RCV000021953

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357681.1:p.Leu195Phe	CA278243 NM_001370752.1:c.583C>T