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: PA658827175

Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 550861

ClinVar RCV Id: RCV000665732

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Val457Leu	CA351608651 NM_000060.4:c.1369G>C CA351608653 NM_000060.4:c.1369G>T