ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA311949
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203294
ClinVar RCV Id:
RCV000185387
RCV000713984
RCV001087209
RCV004537571
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Lys6749Arg
CA311948
NM_001256850.1:c.20246A>G