Canonical Allele Identifier: PA2573220568
Gene: COL6A2 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg1013Cys
CA10073150
NM_001849.4:c.3037C>T