ClinGen Allele Registry
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Canonical Allele Identifier:
PA222649
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
100870
ClinVar RCV:
RCV000080975
RCV000525553
ClinVar Variation:
94970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Thr229Met
CA222647
NM_004369.4:c.686C>T