ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830236332
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000152212
RCV000642829
RCV000727226
RCV001171265
RCV002336302
ClinVar Variation:
165833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Tyr16502Phe
CA178498
NM_133437.4:c.49505A>T