ClinGen Allele Registry
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Canonical Allele Identifier:
PA185647
Gene: TTN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
172734
ClinVar RCV:
RCV000156822
RCV000279104
RCV000312780
RCV000338432
RCV000406384
RCV000407419
RCV000714039
RCV001087961
RCV001798523
RCV004544459
ClinVar Variation:
180019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Thr13048Met
CA185646
NM_133378.4:c.39143C>T