ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830214230
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000231768
RCV000259187
RCV000724743
RCV001798628
RCV002408763
ClinVar Variation:
195006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Arg6544Lys
CA302790
NM_133432.3:c.19631G>A