ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA283317
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47016
ClinVar RCV Id:
RCV000040286
RCV000227469
RCV000337139
RCV000285222
RCV000342472
RCV000302752
RCV000391758
RCV000621575
RCV000769005
RCV001085025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Leu13345Phe
CA283315
NM_133378.4:c.40033C>T