Canonical Allele Identifier: PA2829563671
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 844402
ClinVar RCV Id: RCV001047236
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004728.1:p.Ala320Thr
CA10202895
NM_004737.7:c.958G>A