ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA140804
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47363
ClinVar RCV Id:
RCV000040633
RCV000172251
RCV000768917
RCV001081540
RCV002336151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Leu24309Phe
CA140801
NM_001256850.1:c.72925C>T