ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139708
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46989
ClinVar RCV Id:
RCV000040259
RCV000725531
RCV001084767
RCV002408530
RCV004534898
RCV003149646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Val15167Ile
CA139704
NM_001267550.2:c.45499G>A