Canonical Allele Identifier: PA1139690739
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 972993
ClinVar RCV Id: RCV001249321 RCV001341233 RCV001535735 RCV001562496
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Pro129Ser
CA8645710
NM_000088.4:c.385C>T