ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830207605
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000596415
RCV001130452
RCV001130453
RCV001130454
RCV001130455
RCV001135523
ClinVar Variation:
496984
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Val7974Phe
CA1999749
NM_133378.4:c.23920G>T