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Canonical Allele Identifier: Get Identifier
Gene: COL6A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000483630.1:p.Phe250Leu
CA10069712
ENST00000612273.1:c.750C>A
CA410519690
ENST00000612273.1:c.748T>C
CA410519706
ENST00000612273.1:c.750C>G