ClinGen Allele Registry
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Canonical Allele Identifier:
PA098524
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17159
ClinVar RCV Id:
RCV000018699
RCV000725485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Asp621Asn
CA257724
NM_001849.4:c.1861G>A