ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA311428
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000185179
RCV000872240
RCV001128775
RCV001128776
RCV001128777
RCV001128778
RCV001128779
RCV001528299
RCV002362972
ClinVar Variation:
203144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596870.2:p.Arg2120Leu
CA311424
NM_133379.5:c.6359G>T