Canonical Allele Identifier: PA645452003
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324111
ClinVar RCV Id: RCV000271525 RCV000310291 RCV000363691 RCV002521114
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Glu630Lys
CA8645022
NM_000088.4:c.1888G>A