ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830148480
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
489539
ClinVar RCV:
RCV000592270
RCV001325100
ClinVar Variation:
498115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Pro2325Ser
CA67830560
NM_057166.5:c.6973C>T