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: PA2828445917

Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25031

ClinVar RCV Id: RCV000021953

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Leu195Phe	CA278243 NM_001370658.1:c.583C>T