ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573295041
Gene: COL6A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478055.2:p.Val47Ala
CA410519991
NM_058175.3:c.140T>C