This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LARGE1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502711.1:p.Phe445Leu
CA411544498
ENST00000674999.1:c.1335C>G
CA411544499
ENST00000674999.1:c.1335C>A
CA411544504
ENST00000674999.1:c.1333T>C