ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580380096
Gene: INTU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2337992
ClinVar RCV Id:
RCV002950195
RCV003561124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056508.2:p.Val172Asp
CA3074809
NM_015693.3:c.515T>A