ClinGen Allele Registry
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Canonical Allele Identifier:
PA283601
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040488
RCV000244431
RCV000268004
RCV000307887
RCV000308979
RCV000360249
RCV000365873
RCV000465778
RCV000993468
ClinVar Variation:
47218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ser19148Leu
CA283599
NM_133378.4:c.57443C>T