ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830233765
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000220189
RCV000643282
RCV000997430
RCV001135376
RCV001135377
RCV001135378
RCV001135379
RCV001135380
RCV001170817
RCV002453768
ClinVar Variation:
228120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ala12237Val
CA1992104
NM_133437.4:c.36710C>T