ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA283597
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040486
RCV000248485
RCV000288255
RCV000292517
RCV000346673
RCV000384863
RCV000389111
RCV000460251
RCV001170806
RCV001529618
ClinVar Variation:
47216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Arg20057Cys
CA283594
NM_001256850.1:c.60169C>T