ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830148201
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94994
ClinVar RCV Id:
RCV000306466
RCV000723496
RCV000813495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Val1955Ala
CA222658
NM_057166.5:c.5864T>C