ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829438715
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000152212
RCV000642829
RCV000727226
RCV001171265
RCV002336302
ClinVar Variation:
165833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003310.4:p.Tyr16310Phe
CA178498
NM_003319.4:c.48929A>T