ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826418738
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467294
ClinVar RCV Id:
RCV000537662
RCV002438405
RCV001563367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Val17330Met
CA1993160
NM_001256850.1:c.51988G>A