Canonical Allele Identifier: PA2828072121
Gene: GDAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 245607
ClinVar RCV Id: RCV000474009 RCV000767009 RCV003401192 RCV004020916
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349860.1:p.Met133Ile
CA4785095
NM_001362931.2:c.399G>A
CA371548654
NM_001362931.2:c.399G>C
CA371548656
NM_001362931.2:c.399G>T