ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830149883
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
490005
ClinVar RCV:
RCV000591644
RCV001078890
RCV004024742
ClinVar Variation:
498581
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Phe1646Ser
CA2188631
NM_057167.4:c.4937T>C