ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580501695
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2469978
ClinVar RCV Id:
RCV003190992
RCV003779647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478055.2:p.Asp678Asn
CA10072419
NM_058175.3:c.2032G>A