Canonical Allele Identifier: PA658804255
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 526861
ClinVar RCV Id: RCV001566557 RCV002279451 RCV002279450 RCV000631488 RCV002448936 RCV003330848
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Glu1021Gln
CA8644586
NM_000088.4:c.3061G>C