ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA238533
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192180
ClinVar RCV Id:
RCV000172733
RCV000218176
RCV000469634
RCV001140835
RCV001140836
RCV001142683
RCV001170882
RCV001142681
RCV001142682
RCV002326949
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Val15Ile
CA238531
NM_001267550.2:c.43G>A