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: PA2827195896

Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 975025

ClinVar RCV Id: RCV001251432

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Phe341Val	CA351608028 NM_001323582.1:c.1021T>G