ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139647
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46962
ClinVar RCV Id:
RCV000726416
RCV001089291
RCV000040232
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ala1175Thr
CA139643
NM_133378.4:c.3523G>A