ClinGen Allele Registry
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Canonical Allele Identifier:
PA241438
Gene: COL6A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
192311
ClinVar RCV:
RCV000175702
RCV000653530
RCV000724794
RCV000754716
RCV000764263
RCV001139936
ClinVar Variation:
195150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001839.2:p.Arg68Cys
CA241436
NM_001848.3:c.202C>T