ClinGen Allele Registry
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Canonical Allele Identifier:
PA246682
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
195329
ClinVar RCV:
RCV000179436
RCV000653600
ClinVar Variation:
198168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Pro815His
CA246680
NM_004369.4:c.2444C>A