ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741955272
Gene: INTU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2803880
ClinVar RCV Id:
RCV003681743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056508.2:p.Thr171Ala
CA3074807
NM_015693.3:c.511A>G