ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825784225
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
857917
ClinVar RCV Id:
RCV001063689
RCV001074632
RCV002553946
RCV003317426
RCV002511028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128303.1:p.Leu338Trp
CA4012684
NM_001134831.2:c.1013T>G