ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830237393
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000259190
RCV000539580
RCV000724797
RCV000769926
RCV002345607
ClinVar Variation:
196066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Pro18285Ala
CA302886
NM_133437.4:c.54853C>G