ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830219915
Gene: TTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Pro16288Ser
CA310517
NM_133432.3:c.48862C>T