ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830196610
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467283
ClinVar RCV Id:
RCV000549572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Cys16116Tyr
CA60976860
NM_133378.4:c.48347G>A