Canonical Allele Identifier: PA260269
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35897
ClinVar RCV Id: RCV000029552 RCV000262664 RCV000367913 RCV000599940 RCV000320157 RCV002399337 RCV000521409 RCV000560142 RCV002276573
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Ala348Thr
CA260267
NM_000088.4:c.1042G>A