Canonical Allele Identifier: PA915954216
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17311
ClinVar RCV Id: RCV000018852 RCV001851923
ClinVar Variation Id: 2834310
ClinVar RCV Id: RCV003631900
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Met181Ile
CA10575534
NM_000088.4:c.543G>A
CA400225935
NM_000088.4:c.543G>T
CA400225939
NM_000088.4:c.543G>C