ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830195456
Gene: TTN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000517781
RCV000550143
RCV000617706
RCV000786258
ClinVar Variation:
448799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Lys13352Gln
CA1994992
NM_133378.4:c.40054A>C