ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916054679
Gene: COL6A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478055.2:p.Val804Ile
CA10072553
NM_058175.3:c.2410G>A