ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826417227
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238788
ClinVar RCV Id:
RCV000231241
RCV001131398
RCV001131394
RCV001131396
RCV001131395
RCV001131397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Thr14513Met
CA1994807
NM_001256850.1:c.43538C>T