Canonical Allele Identifier: PA645451916
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 387527
ClinVar RCV Id: RCV000434641 RCV000540512 RCV000766720 RCV001125757 RCV001125756 RCV001127851 RCV002279198
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Pro417Ser
CA8645334
NM_000088.4:c.1249C>T