ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830240371
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47555
ClinVar RCV Id:
RCV000040824
RCV000082453
RCV000620998
RCV000852787
RCV001082921
RCV001134487
RCV001798200
RCV001135944
RCV001135945
RCV001135946
RCV001135947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ser22893Phe
CA141332
NM_133437.4:c.68678C>T