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: PA278303

Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2203318

ClinVar RCV Id: RCV002651648

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Leu405Pro	CA278302 NM_000060.4:c.1214T>C