ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830217473
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179044
ClinVar RCV Id:
RCV000155828
RCV000469678
RCV001133875
RCV001130904
RCV001130905
RCV001130906
RCV001130907
RCV001293204
RCV002453519
RCV003137672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Arg12253His
CA183601
NM_133432.3:c.36758G>A