ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825446501
Gene: DIAPH1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002705906
ClinVar Variation:
1956919
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073280.1:p.Pro593Leu
CA361521030
NM_001079812.3:c.1778C>T