ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA215994
Gene: COL6A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
71514
ClinVar RCV:
RCV000050246
ClinVar Variation:
56908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Gly268Asp
CA215992
NM_001849.4:c.803G>A