ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830219999
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
165833
ClinVar RCV Id:
RCV000152212
RCV000642829
RCV000727226
RCV002336302
RCV001171265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Tyr16435Phe
CA178498
NM_133432.3:c.49304A>T