ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830194946
Gene: TTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Asp12053Asn
CA1995796
NM_133378.4:c.36157G>A