ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA283133
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46878
ClinVar RCV Id:
RCV000040148
RCV000225853
RCV000245854
RCV000770065
RCV001135520
RCV001135521
RCV001130444
RCV001130445
RCV001135522
RCV004534893
RCV004546420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Pro9673Leu
CA283129
NM_133378.4:c.29018C>T