ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826764794
Gene: TULP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194380
ClinVar RCV Id:
RCV000174738
RCV002222423
RCV004537371
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001276324.1:p.Ile406Thr
CA240311
NM_001289395.2:c.1217T>C