Canonical Allele Identifier: PA2580104354
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2138065
ClinVar RCV Id: RCV003050484
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Ile1398Ser
CA400191667
NM_000088.4:c.4193T>G