ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247749
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198882
ClinVar RCV Id:
RCV001155546
RCV000250813
RCV002517761
RCV000724880
RCV001206260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128303.1:p.Leu345Met
CA247748
NM_001134831.2:c.1033T>A