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: PA2827196057

Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1897

ClinVar RCV Id: RCV000001974 RCV000185809

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Thr512Met	CA278009 NM_001323582.1:c.1535C>T