ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830229727
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
264475
ClinVar RCV Id:
RCV000247303
RCV000457380
RCV000596013
RCV000726728
RCV000770126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Gln2228Glu
CA2004958
NM_133437.4:c.6682C>G