ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA227707
Gene: TULP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99664
ClinVar RCV Id:
RCV000086070
RCV000591717
RCV001156199
RCV001156200
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003313.3:p.Ala496Thr
CA227706
NM_003322.6:c.1486G>A