ClinGen Allele Registry
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Canonical Allele Identifier:
PA916054040
Gene: COL6A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000324629
RCV001301872
ClinVar Variation:
285825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478055.2:p.Met59Thr
CA10605263
NM_058175.3:c.176T>C