ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA238519
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192175
ClinVar RCV Id:
RCV000172687
RCV000215717
RCV001083467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Arg7250Gln
CA238518
NM_133378.4:c.21749G>A