Canonical Allele Identifier: PA1139690750
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 961205
ClinVar RCV Id: RCV001234861 RCV002286828
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly145Arg
CA400227342
NM_000088.4:c.433G>C
CA400227343
NM_000088.4:c.433G>A