ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916054877
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_060121.3:p.Thr671Ile
CA277741
NM_017651.5:c.2012C>T