ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830205717
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000643789
RCV000829330
ClinVar Variation:
535665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Thr21201Ser
CA1990648
NM_133378.4:c.63602C>G
CA1990651
NM_133378.4:c.63601A>T