ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830192418
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448771
ClinVar RCV Id:
RCV000518701
RCV000556938
RCV000726124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Glu4975Lys
CA2001565
NM_133378.4:c.14923G>A