ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830230727
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229594
ClinVar RCV Id:
RCV000213210
RCV000643855
RCV001697191
RCV002450638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Lys4012Glu
CA2002698
NM_133437.4:c.12034A>G