ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830210556
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040232
RCV000726416
RCV001089291
ClinVar Variation:
46962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Ala1129Thr
CA139643
NM_133432.3:c.3385G>A