Canonical Allele Identifier: PA645452415
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 287066
ClinVar RCV Id: RCV000319514 RCV001127365 RCV001296479 RCV001127366 RCV002348009 RCV001127367
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Ile1245Phe
CA8644370
NM_000088.4:c.3733A>T