ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645455541
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430329
ClinVar RCV Id:
RCV000493809
RCV001142819
RCV002063859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Ser3073Gly
CA2187327
NM_004369.4:c.9217A>G