ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830191303
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
332951
ClinVar RCV Id:
RCV000312966
RCV000367691
RCV000348061
RCV000402905
RCV000404788
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Leu2173Val
CA2005016
NM_133378.4:c.6517T>G