ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA277742
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000201635
RCV001731519
RCV003495117
ClinVar Variation:
217528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128303.1:p.Thr671Ile
CA277741
NM_001134831.2:c.2012C>T