ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830236215
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229517
ClinVar RCV Id:
RCV000214060
RCV000277330
RCV000312104
RCV000369619
RCV000400221
RCV000325463
RCV000474321
RCV000731447
RCV002338688
RCV003448289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Asp16291Asn
CA1990042
NM_133437.4:c.48871G>A