ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA237922
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000172306
RCV000246388
RCV000500554
RCV000643101
RCV000764325
ClinVar Variation:
191939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Pro16184Leu
CA237921
NM_133378.4:c.48551C>T