ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA237919
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191937
ClinVar RCV Id:
RCV000172304
RCV000463568
RCV003448276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ile16513Thr
CA237918
NM_133378.4:c.49538T>C