Canonical Allele Identifier: PA658827344
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547226
ClinVar RCV Id: RCV000659350 RCV001855387
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Ala463Thr
CA400218410
NM_000088.4:c.1387G>A