ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA242270
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000176351
RCV000457092
RCV000852842
ClinVar Variation:
195716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Thr17864Ala
CA242268
NM_001267550.2:c.53590A>G