ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826764784
Gene: TULP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
849054
ClinVar RCV Id:
RCV001052938
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001276324.1:p.Arg396His
CA363778952
NM_001289395.2:c.1187G>A