ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA111470
Gene: CHCHD10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
140745
ClinVar RCV Id:
RCV000128857
RCV000192232
RCV001268565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998885.1:p.Ser59Leu
CA163486
NM_213720.3:c.176C>T