ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA181814
Gene: TTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Pro12193Ser
CA181813
NM_133378.4:c.36577C>T