Canonical Allele Identifier: PA645451786
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324121
ClinVar RCV Id: RCV000278484 RCV000323135 RCV000380061 RCV002522989
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Glu77Lys
CA8645806
NM_000088.4:c.229G>A