ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825935548
Gene: CANT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441248
ClinVar RCV Id:
RCV000509575
RCV001291039
RCV001363761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153245.1:p.Ile171Phe
CA294812355
NM_001159773.2:c.511A>T