ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645409955
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
413130
ClinVar RCV Id:
RCV000602940
RCV000714042
RCV001082188
RCV002418442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Ile16048Thr
CA1994912
NM_001267550.2:c.48143T>C