ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827350880
Gene: DHX30
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426111
ClinVar RCV Id:
RCV000489269
RCV000546135
RCV001266616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317919.1:p.Arg757Cys
CA352590365
NM_001330990.2:c.2269C>T