ClinGen Allele Registry
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Canonical Allele Identifier:
PA239206
Gene: COL6A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
190797
ClinVar RCV:
RCV000311316
RCV000407691
RCV000536085
RCV000724011
ClinVar Variation:
193634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Asp330Asn
CA239204
NM_001849.4:c.988G>A