ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139382
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040130
RCV000241648
RCV000474330
RCV001281444
RCV001798143
RCV004534888
ClinVar Variation:
46860
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Thr10729Met
CA139379
NM_001267550.2:c.32186C>T