ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830196566
Gene: TTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Pro16012Ser
CA1993391
NM_133378.4:c.48034C>T