ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830229218
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393026
ClinVar RCV Id:
RCV000435204
RCV000643756
RCV001796049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ala1379Val
CA2005349
NM_133437.4:c.4136C>T