ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827546000
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216697
ClinVar RCV Id:
RCV000195696
RCV000248598
RCV001252130
RCV001596984
RCV001157001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337432.1:p.Pro1140Ser
CA335852
NM_001350503.2:c.3418C>T