ClinGen Allele Registry
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Canonical Allele Identifier:
PA916054017
Gene: COL6A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
274763
ClinVar RCV:
RCV000306725
RCV002519342
ClinVar Variation:
290526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478055.2:p.Glu32Lys
CA10071176
NM_058175.3:c.94G>A