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Canonical Allele Identifier: Get Identifier
Gene: COL5A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000481360.1:p.Phe48Leu
CA375440357
ENST00000618395.4:c.142T>C
CA375440362
ENST00000618395.4:c.144T>A
CA375440363
ENST00000618395.4:c.144T>G