ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830148598
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
421371
ClinVar RCV:
RCV000493809
RCV001142819
RCV002063859
ClinVar Variation:
430329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Ser2466Gly
CA2187327
NM_057166.5:c.7396A>G