ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA238070
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192000
ClinVar RCV Id:
RCV000172370
RCV001130655
RCV001130656
RCV001130657
RCV001130658
RCV001133624
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ala8317Thr
CA238069
NM_133378.4:c.24949G>A