ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830214291
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040275
RCV000724839
RCV001078812
ClinVar Variation:
47005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Leu6668Ser
CA139739
NM_133432.3:c.20003T>C