ClinGen Allele Registry
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Canonical Allele Identifier:
PA233843
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
177343
ClinVar RCV:
RCV000153097
RCV001087811
ClinVar Variation:
166945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Arg1096His
CA233841
NM_004369.4:c.3287G>A