Canonical Allele Identifier: PA2828446164
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2734456
ClinVar RCV Id: RCV003499929 RCV004526995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Met379Ile
CA351608290
NM_001370658.1:c.1137G>C
CA351608291
NM_001370658.1:c.1137G>T
CA351608292
NM_001370658.1:c.1137G>A