ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658813764
Gene: INTU
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000598896
RCV000851202
RCV002248815
RCV003935632
ClinVar Variation:
504485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056508.2:p.Ala452Thr
CA3075041
NM_015693.3:c.1354G>A