ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA238313
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192091
ClinVar RCV Id:
RCV000172484
RCV000477223
RCV000622026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596870.2:p.Glu1004Lys
CA238309
NM_133379.5:c.3010G>A