Canonical Allele Identifier: PA2828446264
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1902
ClinVar RCV Id: RCV000001979 RCV000078065 RCV001251700 RCV004018539
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Gln436His
CA285304
NM_001370658.1:c.1308A>C
CA351608648
NM_001370658.1:c.1308A>T