ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830233847
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000184710
RCV000460249
RCV001329653
RCV002453683
RCV002485246
RCV003486751
ClinVar Variation:
202779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Asp12392Asn
CA310261
NM_133437.4:c.37174G>A