ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830205953
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000642936
RCV000828852
RCV002458072
ClinVar Variation:
535138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Thr14417Ile
CA1994274
NM_133378.4:c.43250C>T