Canonical Allele Identifier: PA645451877
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393245
ClinVar RCV Id: RCV000424837 RCV001851108
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Arg322Cys
CA8645462
NM_000088.4:c.964C>T