ClinGen Allele Registry
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Canonical Allele Identifier:
PA098460
Gene: COL6A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
198644
ClinVar RCV:
RCV000184024
RCV000731127
ClinVar Variation:
202178
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001839.2:p.Pro274Leu
CA275469
NM_001848.3:c.821C>T