ClinGen Allele Registry
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Canonical Allele Identifier:
PA658680635
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000546592
RCV000770125
RCV001567645
RCV001824822
RCV002367862
ClinVar Variation:
467418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596870.2:p.Arg2317His
CA2004933
NM_133379.5:c.6950G>A