ClinGen Allele Registry
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Canonical Allele Identifier:
PA916054568
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284489
ClinVar RCV Id:
RCV000259855
RCV003631104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478055.2:p.Thr670Asn
CA10604812
NM_058175.3:c.2009C>A