ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830239837
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192143
ClinVar RCV Id:
RCV000172619
RCV000213505
RCV000244689
RCV001080503
RCV001132342
RCV001129598
RCV001129600
RCV001129597
RCV001129599
RCV001171247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ser22129Ile
CA302602
NM_133437.4:c.66386G>T