ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830236177
Gene: TTN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000543490
RCV000733724
RCV002341351
ClinVar Variation:
467478
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ala16214Thr
CA1990080
NM_133437.4:c.48640G>A