ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830145816
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
272638
ClinVar RCV:
RCV000327015
RCV000349130
RCV003517176
ClinVar Variation:
288401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476506.3:p.Pro197Leu
CA2189684
NM_057165.5:c.590C>T