ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654187
Gene: TULP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444681
ClinVar RCV Id:
RCV000512978
RCV001199561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003313.3:p.Val423Ala
CA363779143
NM_003322.6:c.1268T>C