ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA148088
Gene: COL6A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Ala3012Pro
CA148086
NM_004369.4:c.9034G>C