ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA148804
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95756
ClinVar RCV Id:
RCV000081799
RCV000444551
RCV000677336
RCV001082992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060121.3:p.Ser1123Phe
CA148802
NM_017651.5:c.3368C>T