ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829447509
Gene: TULP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3184857
ClinVar RCV Id:
RCV004481726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003313.3:p.Val448Met
CA363778962
NM_003322.6:c.1342G>A