Canonical Allele Identifier: PA2828448624
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 38574
ClinVar RCV Id: RCV000032017 RCV000506513
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357681.1:p.Glu44Asp
CA278386
NM_001370752.1:c.132G>C
CA351603230
NM_001370752.1:c.132G>T