ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916043632
Gene: GDAP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
212639
ClinVar RCV:
RCV000200426
RCV000416100
RCV001159853
RCV001161257
RCV002345717
RCV002492919
ClinVar Variation:
216707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349861.1:p.Ile77Val
CA339304
NM_001362932.2:c.229A>G